Interphotoreceptor Retinoid-Binding Protein (IRBP) in Retinal Health and Disease
PMID: 33328889
5,487 Matching Annotations
- Oct 2026
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes
PMID: 24849935
Gene: BBS7
HGNC: 18758
Disease: Bardet-Biedl syndrome 7
MONDO: 0014435
InheritancePattern: autosomal recessive
Prevalence: The prevalence of BBS7 variants among Bardet-Biedl syndrome cohorts has been reported at 4.2% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
PMID: 8944027
Gene: GUCY2D
HGNC: 4689
Disease: Leber congenital amaurosis 1
MONDO: 0008764
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.
Penetrance: Fully penetrant, with onset in neonates or in infancy
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes
PMID: 15981244
Gene: LRP5
HGNC: 6697
Disease: osteoporosis-pseudoglioma syndrome
MONDO: 0009820
InheritancePattern: autosomal recessive
Prevalence: osteoporosis-pseudoglioma syndrome is estimated to occur in 1 out of every 2,000,000 live births.
Penetrance: The penetrance of the phenotype among homozygous or compound heterozygous cases appears to be complete, while heterozygous carriers of deleterious variants appear to be mildly affected.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition
PMID: 19717472
Gene: GPR143
HGNC: 20145
Disease: X-linked recessive ocular albinism
MONDO: 0021019
InheritancePattern: X-linked recessive
Prevalence: Ocular albinism has an estimated prevalence between 1 in 111,000 and 1 in 1,000,000 live births (PMID: 35495622)
Penetrance: Fully penetrant in males, with onset in infancy. Most female carriers appear to be unaffected.
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Gene therapy for red-green colour blindness in adult primates
PMID: 19759534
Gene: OPN1LW
HGNC: 9936
Disease: protan color blindness
MONDO: 0010565
InheritancePattern: X-linked
Prevalence: The overall prevalence of protan color blindness is approximately 1% in males, which is higher than that of blue cone monochromacy (~1 in 100,000, PMID: 35759666).
Penetrance: Known disease-causing alleles appear to be almost completely penetrant in males (PMID: 21167193).
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa
PMID: 25383878
Gene: PRPF4
HGNC: 17349
Disease: retinitis pigmentosa 70
MONDO: 0014400
InheritancePattern: autosomal dominant
Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,500 and 1 in 27,000). The proportion of that incidence made up by the specific form caused by variants in PRPF4 is not clear.
Penetrance: Known disease-causing alleles appear to be incompletely penetrant (PMID: 25383878).
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Mutations in the Retinal Guanylate Cyclase (RETGC-1) Gene in Dominant Cone-Rod Dystrophy
PMID: 9618177
Gene: GUCY2D
HGNC: 4689
Disease: Cone-rod dystrophy 6
MONDO: 0011143
InheritancePattern: Autosomal Dominant
Prevalence: The overall prevalence of cone-rod dystrophy is between 1 in 30,000 and 1 in 40,000 (PMID: 17270046), while the proportion of cone-rod dystrophy caused by GUCY2D variants is between 19% and 23% (PMID: 22183351, PMID: 25515582). Thus, the prevalence of cone-rod dystrophy 6 is between 1 in 130,000 and 1 in 215,000.
Penetrance: Penetrance is age-dependent, with onset between the 1st and 6th decades of life.
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bjo.bmj.com bjo.bmj.com
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Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby’s fundus dystrophy or retinitis pigmentosa
PMID: 9924344
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation
PMID: 9400791
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy
PMID: 35608844
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genome.cshlp.org genome.cshlp.org
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Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes.
PMID: 8919688
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray
PMID: 20034086
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www.jbc.org www.jbc.org
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The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice
PMID: 27703005
Gene: GUCY2D
HGNC: 4689
Disease: Cone-rod dystrophy 6
MONDO: 0011143
InheritancePattern: Autosomal Dominant
Prevalence: The overall prevalence of cone-rod dystrophy is between 1 in 30,000 and 1 in 40,000 (PMID: 17270046), while the proportion of cone-rod dystrophy caused by GUCY2D variants is between 19% and 23% (PMID: 22183351, PMID: 25515582). Thus, the prevalence of cone-rod dystrophy 6 is between 1 in 130,000 and 1 in 215,000.
Penetrance: Penetrance is age-dependent, with onset between the 1st and 6th decades of life.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Bardet-Biedl Syndrome in Rhesus Macaques: A Nonhuman Primate Model of Retinitis Pigmentosa
PMID: 31589838
Gene: BBS7
HGNC: 18758
Disease: Bardet-Biedl syndrome 7
MONDO: 0014435
InheritancePattern: autosomal recessive
Prevalence: The prevalence of BBS7 variants among Bardet-Biedl syndrome cohorts has been reported at 4.2% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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The map position of the rds gene on the 17th chromosome of the mouse
PMID: 419532
Gene: PRPH2
HGNC: 9942
Disease: retinitis pigmentosa 7
MONDO: 0011974
InheritancePattern: semi-dominant
Prevalence: The incidence of PRPH2-related cases among inherited retinal dystrophies is reported to range from 3.5% in North America to 10.3% in France (PMID: 36010202).
Penetrance: The penetrance among biallelic cases appears to be complete, while the monoallelic cases exhibit incomplete penetrance (PMID: 36609934).
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish
PMID: 27737822
Gene: EYS
HGNC: 21555
Disease: Retinitis pigmentosa 25
MONDO: MONDO:0011272
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa caused by homozygous or compound heterozygous EYS variants is estimated to be 12% in the French population (PMID: 20333770), implying in an overall prevalence between 1 in 25,000 and 1 in 33,000.
Penetrance: The disease appears to be completely penetrant among published families.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Mutation of cGMP phosphodiesterase 6alpha'-subunit gene causes progressive degeneration of cone photoreceptors in zebrafish
PMID: 18824093
Gene: PDE6C
HGNC: 8787
Disease: cone dystrophy 4
MONDO: 0013129
InheritancePattern: recessive
Prevalence: cone dystrophy in general is estimated to have a prevalence of 1 in 40,000 (PMID: 30578485).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
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Human cone photoreceptor dependence on RPE65 isomerase
PMID: 17848510
Gene: RPE65
HGNC: 10294
Disease: Leber congenital amaurosis 2
MONDO: 0008765
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by RPE65 variants is between 1% and 16.7%. Thus, the prevalence of Leber congenital amaurosis 2 is between 1 in 200,000 and 1 in 10,000,000.
Penetrance: Fully penetrant, with onset typically by 1 year of age
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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A novel phenotype associated with the R162W variant in the KCNJ13 gene
PMID: 35477418
Gene: KCNJ13
HGNC: 6259
Disease: snowflake vitreoretinal degeneration
MONDO: 0008663
InheritancePattern: autosomal dominant
Prevalence: The overall prevalence of snowflake vitreoretinal degeneration is ~1 in 1,000,000 (https://www.orpha.net/en/disease/detail/91496).
Penetrance: Known disease-causing alleles appear to be completely penetrant (PMID: 14644728).
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort
PMID: 30025130
Gene: RP1L1
HGNC: 15946
Disease: occult macular dystrophy
MONDO: 0013316
InheritancePattern: autosomal dominant
Prevalence: The prevalence of occult macular dystrophy is "significantly less than one in 10,000 or 100,000 (https://www.reviewofoptometry.com/article/the-best-is-yet-to-come-feb).
Penetrance: The disease is known to be incompletely penetrant in family members carrying the heterozygous p.Arg45Trp variant (PMID: 20826268).
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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PMID: 20691256
Gene: ADAM9
HGNC: 216
Disease: cone-rod dystrophy 9
MONDO: MONDO:0013002
InheritancePattern: autosomal recessive
Prevalence: The prevalence of cone-rod dystrophy in general is estimated to be 1 in 40,000 (PMID: 17270046), however, the specific prevalence of cone-rod dystrophy 9 is unknown.
Penetrance: Penetrance appears to be complete in reported families, but it is possible that incomplete penetrance may be associated with some variants.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7
PMID: 26557828
Gene: BBS7
HGNC: 18758
Disease: Bardet-Biedl syndrome 7
MONDO: 0014435
InheritancePattern: autosomal recessive
Prevalence: The prevalence of BBS7 variants among Bardet-Biedl syndrome cohorts has been reported at 4.2% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
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www.pnas.org www.pnas.org
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RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells
PMID: 21078983
Gene: GUCY2D
HGNC: 4689
Disease: Leber congenital amaurosis 1
MONDO: 0008764
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.
Penetrance: Fully penetrant, with onset in neonates or in infancy
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Rod phosphodiesterase-6 PDE6A and PDE6B Subunits Are Enzymatically Equivalent
PMID: 20940301
Gene: PDE6A
HGNC: 8785
Disease: retinitis pigmentosa 43
MONDO: MONDO:0013437
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a recessive mode of inheritance is estimated to be 65-85% (between 1 in 3,500 and 1 in 6,200). Retinitis pigmentosa 43 is considered to be make up 2-5% of these cases, with an overall prevalence estimated between 1 in 70,000 and 1 in 310,000.
Penetrance: Known disease-causing alleles appear to be completely penetrant.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Severe ocular phenotypes in Rbp4-deficient mice in the C57BL/6 genetic background
PMID: 26974396
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
PMID: 28041643
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13
PMID: 27203561
Gene: KCNJ13
HGNC: 6259
Disease: Leber congenital amaurosis 16
MONDO: 0013613
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns (PMID: 10951519), while the proportion of Leber congenital amaurosis caused by KCNJ13 variants is unknown.
Penetrance: Known disease-causing alleles appear to be completely penetrant.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea
PMID: 8251014
Gene: PRPH2
HGNC: 9942
Disease: retinitis pigmentosa 7
MONDO: 0011974
InheritancePattern: semi-dominant
Prevalence: The incidence of PRPH2-related cases among inherited retinal dystrophies is reported to range from 3.5% in North America to 10.3% in France (PMID: 36010202).
Penetrance: The penetrance among biallelic cases appears to be complete, while the monoallelic cases exhibit incomplete penetrance (PMID: 36609934).
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Mutations in RPE65 cause Leber's congenital amaurosis
PMID: 9326927
Gene: RPE65
HGNC: 10294
Disease: Leber congenital amaurosis 2
MONDO: 0008765
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by RPE65 variants is between 1% and 16.7%. Thus, the prevalence of Leber congenital amaurosis 2 is between 1 in 200,000 and 1 in 10,000,000.
Penetrance: Fully penetrant, with onset typically by 1 year of age
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Case: P87, Chinese, female, 27yo
DiseaseAssertion: VWD1
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0012147
(Reduced quantity of VWF)
CaseHPOFreeText: type O blood, bleeding score = 3; VWF:Ag (%) = 55.9, VWF:RCo (%) = 55.8, FVIII:C (%) = 70.1, VWF:CB (%) = 61.3, VWFpp (%) = 88.0, VWF:RCo/VWF:Ag = 1.0, VWF:CB/VWF:Ag = 1.1, VWFpp/VWF:Ag = 1.6, FVIII:C/VWF:Ag = 1.3
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: NGS
PreviouslyPublished: NA
Gene: VWF
Variant: c.6860G>A (p.Arg2287Gln)
HGVS: NM_000552.3:c.6860G>A (p.Arg2287Gln)
ClinVarID: NA
CAID: CA6401877; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA6401877
gnomAD: MAF = 0.005415 (108/19946 alleles) in the East Asian population; https://gnomad.broadinstitute.org/variant/12-6094770-C-T
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Case: P2, Chinese, female, 3yo
DiseaseAssertion: VWD1
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0012147
(Reduced quantity of VWF)
CaseHPOFreeText: type O blood, bleeding score = 4; VWF:Ag (%) = 55.0, VWF:RCo (%) = 53.0, FVIII:C (%) = 59.0, VWF:CB (%) = 47.0, VWFpp (%) = 57.4, VWF:RCo/VWF:Ag = 1.0, VWF:CB/VWF:Ag = 0.9, VWFpp/VWF:Ag = 1.0, FVIII:C/VWF:Ag = 1.1
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: NGS
PreviouslyPublished: NA
Gene: VWF
Variant: c.6104G>A (p.Gly2035Asp)
HGVS: NM_000552.3:c.6104G>A (p.Gly2035Asp)
ClinVarID: NA
CAID: CA6402069; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA6402069
gnomAD: MAF = 0.005613 (112/19954 alleles; 2 homozygotes) in the East Asian population; https://gnomad.broadinstitute.org/variant/12-6103733-C-T
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Case: P71, Chinese, female, 23yo
DiseaseAssertion: VWD1
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0012147
(Reduced quantity of VWF)
CaseHPOFreeText: type O blood, bleeding score = 1; VWF:Ag (%) = 57.9, VWF:RCo (%) = 55.6, FVIII:C (%) = 71.3, VWF:CB (%) = 69.7, VWFpp (%) = 66.9, VWF:RCo/VWF:Ag = 1.0, VWF:CB/VWF:Ag = 1.2, VWFpp/VWF:Ag = 1.2, FVIII:C/VWF:Ag = 1.2
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: NGS
PreviouslyPublished: NA
Gene: VWF
Variant: c.4850A>G (p.Lys1617Arg)
HGVS: NM_000552.3:c.4850A>G (p.Lys1617Arg)
ClinVarID: NA
CAID: CA6402448; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA6402448
gnomAD: MAF = 0.0002507 (5/19942 alleles) in the East Asian population; https://gnomad.broadinstitute.org/variant/12-6127734-T-C
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Case: P7, Chinese, female, 27yo
DiseaseAssertion: VWD1
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0012147
(Reduced quantity of VWF)
CaseHPOFreeText: type O blood, bleeding score = 9; VWF:Ag (%) = 5.4, VWF:RCo (%) = 5.3, FVIII:C (%) = 28, VWF:CB (%) = 4.1, VWFpp (%) = 4.8, VWF:RCo/VWF:Ag = 1.0, VWF:CB/VWF:Ag = 0.8, VWFpp/VWF:Ag = 0.9, FVIII:C/VWF:Ag = 5.2, RIPA (1.2 mg/ml, %) = 73.3
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: NGS
PreviouslyPublished: NA
Gene: VWF
Variant 1: c.711C>G (p.Cys237Trp)
HGVS: NM_000552.3:c.711C>G (p.Cys237Trp)
ClinVarID: NA
CAID: CA383509260; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383509260
gnomAD: absent
Variant: c.1109+47T>A - Unregistered Variant
HGVS: NA
ClinVarID: NA
CAID: NA
gnomAD: NA
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Case: P10, Chinese, male, 5yo
DiseaseAssertion: VWD1
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0012147
(Reduced quantity of VWF)
CaseHPOFreeText: type A blood, bleeding score = 2; VWF:Ag (%) = 4.2, VWF:RCo (%) = 3.8, FVIII:C (%) = 30.1, VWF:CB (%) = 3.5, VWFpp (%) = 4.1, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 0.8, VWFpp/VWF:Ag = 1.0, FVIII:C/VWF:Ag = 7.4, RIPA (1.2 mg/ml, %) = 40.1
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: NGS
PreviouslyPublished: NA
Gene: VWF
Variant 1: c.7199delA (p.Asn2400Thrfs*4) - Unregistered Variant
HGVS: NA
ClinVarID: NA
CAID: NA
gnomAD: NA
Variant 2: c.8155+5G>C - Unregistered Variant
HGVS: NA
ClinVarID: NA
CAID: NA
gnomAD: NA
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Case: P6, Chinese, male, 57yo
DiseaseAssertion: VWD2A
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0012147
(Reduced quantity of VWF)
CaseHPOFreeText: type AB blood, bleeding score = 15; VWF:Ag (%) = 18.5, VWF:RCo (%) = 5.8, FVIII:C (%) = 39.0, VWF:CB (%) = 4.9, VWFpp (%) = 36.4, VWF:RCo/VWF:Ag = 0.3, VWF:CB/VWF:Ag = 0.3, VWFpp/VWF:Ag = 2.0, FVIII:C/VWF:Ag = 2.1
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: NGS
PreviouslyPublished: NA
Gene: VWF
Variant: c.3920T>G (p.Leu1307Arg)
HGVS: NM_000552.5:c.3920T>G (p.Leu1307Arg)
ClinVarID: NA
CAID: CA383506205; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383506205
gnomAD: absent
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Case: P72, Chinese, female, 25yo
DiseaseAssertion: VWD2B
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0012147
(Reduced quantity of VWF)
CaseHPOFreeText: type A blood, bleeding score = 7; VWF:Ag (%) = 31.1, VWF:RCo (%) = 10.5, FVIII:C (%) = 44.8, VWF:CB (%) = 5.4, VWFpp (%) = 73, VWF:RCo/VWF:Ag = 0.3, VWF:CB/VWF:Ag = 0.2, VWFpp/VWF:Ag = 2.3, FVIII:C/VWF:Ag = 1.4, RIPA (0.5 mg/ml, %) = 8.7, PLT(×109/l) = 181
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: NGS
PreviouslyPublished: NA
Gene: VWF
Variant: c.3939G>C (p.Trp1313Cys)
HGVS: NM_000552.4(VWF):c.3939G>C (p.Trp1313Cys)
ClinVarID: 287; https://www.ncbi.nlm.nih.gov/clinvar/variation/287/
CAID: NA
gnomAD: absent
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Case: P77, Chinese, female, 10yo
DiseaseAssertion: VWD3
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0012147
(Reduced quantity of VWF)
CaseHPOFreeText: type B blood, bleeding score = 7; VWF:Ag (%) = 3.0, VWF:RCo (%) = 2.7, FVIII:C (%) = 6.8, VWF:CB (%) = 2.1, VWFpp (%) = 3.2, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 0.7, VWFpp/VWF:Ag = 1.1, FVIII:C/VWF:Ag = 2.3
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: NGS
PreviouslyPublished: NA
Gene: VWF
Variant 1: c.6771C>A (p.Cys2257Ter)
HGVS: NM_000552.5:c.6771C>A (p.Cys2257Ter)
ClinVarID: NA
CAID: CA383489897; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383489897
gnomAD: absent
Variant 2: c.8116-2delA - unregistered variant
HGVS: NA
ClinVarID: NA
CAID: NA
gnomAD: NA
-
Case: P34, Chinese, female, 34yo
DiseaseAssertion: VWD2B
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0012147
(Reduced quantity of VWF)
CaseHPOFreeText: type O blood, bleeding score = 13; VWF:Ag (%) = 20.2, VWF:RCo (%) = 6.9, FVIII:C (%) = 32.9, VWF:CB (%) = 4.8, VWFpp (%) = 54.5, VWF:RCo/VWF:Ag = 0.3, VWF:CB/VWF:Ag = 0.2, VWFpp/VWF:Ag = 2.7, FVIII:C/VWF:Ag = 1.6, RIPA (0.5 mg/ml, %) = 65.1, PLT(×109/l) = 153
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: NGS
PreviouslyPublished: NA
Gene: VWF
Variant: c.3916C>T (p.Arg1306Trp)
HGVS: NM_000552.4(VWF):c.3916C>T (p.Arg1306Trp)
ClinVarID: 288; https://www.ncbi.nlm.nih.gov/clinvar/variation/288/
CAID: NA
gnomAD: absent
-
Case: P61, Chinese, female, 34yo
DiseaseAssertion: VWD1
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0012147
(Reduced quantity of VWF)
CaseHPOFreeText: type O blood, bleeding score = 2; VWF:Ag (%) = 57.6, VWF:RCo (%) = 57.8, FVIII:C (%) = 76.2, VWF:CB (%) = 67.4, VWFpp (%) = 62.7, VWF:RCo/VWF:Ag = 1.0, VWF:CB/VWF:Ag = 1.2, VWFpp/VWF:Ag = 1.1, FVIII:C/VWF:Ag = 1.3
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: NGS
PreviouslyPublished: NA
Gene: VWF
Variant: c.-128G>A
HGVS: NM_000552.3:c.-128G>A
ClinVarID: NA
CAID: CA603092904; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA603092904
gnomAD: MAF = 0.001182 (1/846 alleles) in Latino/Admixed American population; https://gnomad.broadinstitute.org/variant/12-6233714-C-T
-
Case: P27, Chinese, female, 3yo
DiseaseAssertion: VWD2N
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0012147
(Reduced quantity of VWF)
CaseHPOFreeText: type B blood, bleeding score = 6; VWF:Ag (%) = 9.5, VWF:RCo (%) = 8.9, FVIII:C (%) = 6.5, VWF:CB (%) = 6.9, VWFpp (%) = 10.8, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 0.7, VWFpp/VWF:Ag = 1.1, FVIII:C/VWF:Ag = 0.7, VWF: FVIIIB (%) = 0.0
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: NGS
PreviouslyPublished: NA
Gene: VWF
Variant 1: c.2396G>A (p.Cys799Tyr)
HGVS: NM_000552.5:c.2396G>A (p.Cys799Tyr)
ClinVarID: NA
CAID: CA232300402; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA232300402
gnomAD: absent
Variant 2: c.3197_3201del - unregistered variant
HGVS: NA
ClinVarID: NA
CAID: NA
gnomAD: NA
-
Case: P36, Chinese, male, 56yo
DiseaseAssertion: VWD3
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0012147
(Reduced quantity of VWF)
CaseHPOFreeText: type A blood, bleeding score = 10; VWF:Ag (%) = 1.0, VWF:RCo (%) = 0.9, FVIII:C (%) = 4.1, VWF:CB (%) = 0.9, VWFpp (%) = 0.9, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 0.9, VWFpp/VWF:Ag = 0.9, FVIII:C/VWF:Ag = 4.1
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: NGS
PreviouslyPublished: NA
Gene: VWF
Variant: c.5870delA - unregistered variant
HGVS: NA
ClinVarID: NA
CAID: NA
gnomAD: NA
-
Case: P83, Chinese, male, 5yo
DiseaseAssertion: VWD1
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0012147
(Reduced quantity of VWF)
CaseHPOFreeText: patient coexisting with mild haemophilia A; type O blood, bleeding score = 3; VWF:Ag (%) = 44.5, VWF:RCo (%) = 36.7, FVIII:C (%) = 12.6, VWF:CB (%) = 49.2, VWFpp (%) = 35.2, VWF:RCo/VWF:Ag = 0.8, VWF:CB/VWF:Ag = 1.1, VWFpp/VWF:Ag = 0.8, FVIII:C/VWF:Ag = 0.3
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: NGS
PreviouslyPublished: NA
Gene: VWF
Variant: c.6104G>A (p.Gly2035Asp)
HGVS: NM_000552.3:c.6104G>A (p.Gly2035Asp)
ClinVarID: NA
CAID: CA6402069; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA6402069
gnomAD: MAF = 0.005613 (112/19954 alleles; 2 homozygotes) in the East Asian population; https://gnomad.broadinstitute.org/variant/12-6103733-C-T
Multiple Gene Variants
Gene: F8
Variant: c.943G>T (p.Ala315Ser)
HGVS: NM_000132.3:c.943G>T (p.Ala315Ser)
ClinVarID: NA
CAID: CA414917823; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA414917823
gnomAD: absent
-
Case: P29, Chinese, male, 10yo
DiseaseAssertion: VWD2M
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0012147
(Reduced quantity of VWF)
CaseHPOFreeText: type B blood, bleeding score = 5; VWF:Ag (%) = 13.9, VWF:RCo (%) = 5.9, FVIII:C (%) = 37.8, VWF:CB (%) = 17.4, VWFpp (%) = 31.3, VWF:RCo/VWF:Ag = 0.4, VWF:CB/VWF:Ag = 1.3, VWFpp/VWF:Ag = 2.3, FVIII:C/VWF:Ag = 2.7
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: NGS
PreviouslyPublished: NA
Gene: VWF
Variant: c.3943C>T (p.Arg1315Cys)
HGVS: NM_000552.4(VWF):c.3943C>T (p.Arg1315Cys)
ClinVarID: 100310; https://www.ncbi.nlm.nih.gov/clinvar/variation/100310/
CAID: NA
gnomAD: absent
-
Case: P22, Chinese, male, 22yo
DiseaseAssertion: VWD3
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0012147
(Reduced quantity of VWF)
CaseHPOFreeText: type O blood, bleeding score = 10; VWF:Ag (%) = 1.4, VWF:RCo (%) = 1.2, FVIII:C (%) = 5.1, VWF:CB (%) = 1.3, VWFpp (%) = 1.0, VWF:RCo/VWF:Ag = 0.9, VWF:CB/VWF:Ag = 0.9, VWFpp/VWF:Ag = 0.7, FVIII:C/VWF:Ag = 3.6
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: NGS
PreviouslyPublished: NA
Gene: VWF
Variant: c.8116–2delA - Unregistered variant
HGVS: NA
ClinVarID: NA
CAID: NA
gnomAD: NA
-
Case: P42, Chinese, male, 10yo
DiseaseAssertion: VWD1
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0012147
(Reduced quantity of VWF)
CaseHPOFreeText: type O blood, bleeding score = 1; VWF:Ag (%) = 41.9, VWF:RCo (%) = 33.9, FVIII:C (%) = 54.7, VWF:CB (%) = 46.8, VWFpp (%) = 34.6, VWF:RCo/VWF:Ag = 1.0, VWF:CB/VWF:Ag = 1.1, VWFpp/VWF:Ag = 0.8, FVIII:C/VWF:Ag = 1.3
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: NGS
PreviouslyPublished: NA
Gene: VWF
Variant: c.-672C>T
HGVS: NA
ClinVarID: NA
CAID: NA
gnomAD: NA
-
Molecular and clinical profile of VWD in a large cohort of Chinese population: application of next generation sequencing and CNVplex ® technique
PMID: 28536718
Gene: VWF
HGNCID: 12726
-
Case: P33, Chinese, female, 35yo
DiseaseAssertion: VWD3
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0012147
(Reduced quantity of VWF)
CaseHPOFreeText: type A blood, bleeding score = 10; VWF:Ag (%) = 0.5, VWF:RCo (%) = <0.5, FVIII:C (%) = 5.0, VWF:CB (%) = <0.5, VWFpp (%) = <0.5, VWF:RCo/VWF:Ag = NA, VWF:CB/VWF:Ag = NA, VWFpp/VWF:Ag = NA, FVIII:C/VWF:Ag = 10.0
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: NGS
PreviouslyPublished: NA
Gene: VWF
Variant: c.813C>G (p.Tyr271Ter)
HGVS: NM_000552.5:c.813C>G (p.Tyr271Ter)
ClinVarID: NA
CAID: CA383508522; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383508522
gnomAD: MAF = 0.0001088 (2/18380 alleles) in the East Asian popualtion; https://gnomad.broadinstitute.org/variant/12-6184562-G-C
Tags
- Zygosity:Homozygous
- CAid:CA232300402
- CAid:CA6402448
- CAid:CA383508522
- CAid:CA383489897
- CAid:CA6402069
- Mutation:Missense
- DiseaseEntity:VWD2M
- MultipleGeneVariants
- Gene:VWF
- ClinVarID:100310
- Individual
- Mutation:Regulatory
- CAid:CA383509260
- CaseInfo
- General
- ClinGen
- Mutation:Frameshift
- Zygosity:Heterozygous
- CAid:CA6401877
- CAid:CA603092904
- DiseaseEntity:VWD3
- UnregisteredVariant
- InheritancePattern:AutosomalRecessive
- InheritancePattern:AutosomalDominant
- inferred_gene_source:Gene_Name
- Mutation:Nonsense
- ClinGen VWF
- ClinVarID:287
- DiseaseEntity:VWD2A
- CAid:CA383506205
- inferred_gene_hgnc:12726
- inferred_gene_source:CAID
- DiseaseEntity:VWD2N
- ClinVarID:288
- inferred_gene_source:HGNC_body
- Zygosity:CompoundHeterozygous
- DiseaseEntity:VWD2B
- DiseaseEntity:VWD1
Annotators
URL
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
I : 1
Case#: F1, I:1
DiseaseAssertion: Type 2 VWD
CaseHPOFreeText: all mutimers present, VWF:Ag = 63; VWF:RCo = 56; VWF:GPIbM = 52; VWF:RCo/VWF:Ag = 0.88; VWF:GPIbM/VWF:Ag = 0.82; VWF:GPIbM/VWF:RCo = 0.93
CasePreviousTesting: Not clearly described
Gene: VWF
Variant: p.[V1229G; N1231T; P1266L]; [=]
HGVS: NM_000552.5(VWF):c.3686T>G (p.Val1229Gly), NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
CAID: CA228433, CA114170
-
II : 1
Case#: F20, II:1
DiseaseAssertion: Type 2 VWD
CaseHPOFreeText: loss of high and intermediate MWMs, VWF:Ag = 45; VWF:RCo = 7; VWF:GPIbM = 43; 0.16; 0.95; 6.11
CasePreviousTesting: Not clearly described
Gene: VWF
Variant: p.[V1316M];[=]
HGVS: c.3946G>A (p.Val1316Met)
CAID: CA114127
gnomAD: absent from gnomad v4.1.0
-
I : 1
Case#: F8, I:1
DiseaseAssertion: Type 2 VWD
CaseHPOFreeText: partial loss of high molecular weight multimers, VWF:Ag = 37; VWF:RCo = 21; VWF:GPIbM = 34; 0.57; 0.92; 1.60
CasePreviousTesting: Not clearly described
Gene: VWF
Variant: p.[P1337L];[=]
HGVS: c.4010C>T (p.Pro1337Leu)
CAID: CA228510
gnomAD: https://gnomad.broadinstitute.org/variant/12-6019408-G-A?dataset=gnomad_r4
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
The D' domain of von Willebrand factor requires the presence of the D3 domain for optimal factor VIII binding
PMID: 30111575
-
-
journals.plos.org journals.plos.org
-
47 2 F 5 c.478G.Ap.G160R Hmz ,1 2.3 6 - +
Case: 47, F, 2 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: no family history of disease, Consanguinity: yes
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): <1, VWF:Ag (U/dl): 2.3, Bleeding Score: 6
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.478G>A (p.Gly160Arg), Exon 5
Homozygous
-
8 2 F 10 c.1117C.T p.R373* Hmz 4.5 ,1 11 - -
Case: 8, F, 2 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no, no family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 4.5, VWF:Ag (U/dl): <1, Bleeding Score: 11
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.1117C>T (p.Arg373*), Exon 10, Homozygous
-
21 22 M 50 c.8145C.Ap.C2715* Hmz 8 4.9 9 - -
Case: 21, M, 22 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no, no family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 8, VWF:Ag (U/dl): 4.9, Bleeding Score: 9
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.8145C>A (p.Cys2715*), Exon 50, Homozygous
-
70 22 M 16 c.1946-1G.A Hmz 1.2 1 4 + -
Case: 70, M, 22 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: family history of disease, Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 1.2, VWF:Ag (U/dl): 1, Bleeding Score: 4
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.1946-1G>A, Exon 16
Homozygous
-
10 42 M 31 c.5335C.T p.R1779* Htz ,1 ,1 34 + -
Case: 10, M, 42 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no, family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): <1, VWF:Ag (U/dl): <1, Bleeding Score: 34
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.5335C>T (p.Arg1779*), Exon 31, Heterozygous
-
18 8 M 47 c.7300C.T p.R2434* Hmz 8 4.6 8 - +
Case: 18, M, 8 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: yes, no family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 8, VWF:Ag (U/dl): 4.6, Bleeding Score: 8
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.7300C>T (p.Arg2434*), Exon 47, Homozygous
Note: Look over exon
-
23 10 F 8 c.954T.A p.N318K Htz 3.1 ,1 8 + +
Case: 23, F, 10 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: family history of disease, Consanguinity: yes
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 3.1, VWF:Ag (U/dl): <1, Bleeding Score: 8
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.954T>A (p.Asn318Lys), Exon 8
Heterozygous
-
62 5 F 50 c.8145C.Ap.C2715* Hmz 3.5 2.6 15 - +
Case: 62, F, 5 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: yes, no family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 3.5, VWF:Ag (U/dl): 2.6, Bleeding Score: 15
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.8145C>A (p.Cys2715*), Exon 50, Homozygous
-
29 0.8 F 45 c.7558C.T p.Q2520* Hmz 1.6 1.8 3 + +
Case: 29, F, 0.8 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: yes, family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 1.6, VWF:Ag (U/dl): 1.8, Bleeding Score: 3
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.7558C>T (p.Gln2520* ), Exon 45, Homozygous
-
15 29 M 31 c.5335C.T p.R1779* Hmz 1.8 ,1 16 + -
Case: 15, M, 29 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no, family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 1.8, VWF:Ag (U/dl): <1, Bleeding Score: 16
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.5335C>T (p.Arg1779*), Exon 31, Homozygous
-
23 10 F 18 c.2430C.Ap.C810* Htz 3.1 ,1 8 + +
Case: 23, F, 10 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: yes, family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 3.1, VWF:Ag (U/dl): <1, Bleeding Score: 8
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.2430C>A (p.Cys810*), Exon 18, Heterozygous
-
12 16 F 31 c.5335C.T p.R1779* Hmz 6 ,1 16 + -
Case: 12, F, 16 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no, family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): 6, VWF:Ag (U/dl): <1, Bleeding Score: 16
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.5335C>T (p.Arg1779*), Exon 31, Homozygous
-
20 10 M 45 c.7603C.T p.R2535* Hmz ,1 ,1 8 + -
Case: 20, M, 10 years, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no, family history of disease
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: FVIII:C: (U/dl): <1, VWF:Ag (U/dl): <1, Bleeding Score: 8
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.7603C>T (p.Arg2535*), Exon 45, Homozygous
Tags
- Zygosity:Homozygous
- CAID:CA228781
- Mutation:Missense
- CAID:CA383518171
- DiseaseEntity:VWD3
- Mutation:Nonsense
- ClinGen VWF
- CAID:CA383495636
- CAID:CA203585
- CAID:CA228713
- Mutation:Intronic
- CAID:CA114145
- inferred_gene_source:CAID
- inferred_gene_hgnc:12726
- CAID:CA383487254
- CAID:CA383521904
- CAID:CA383489563
- CAID:CA228261
- Zygosity:Heterozygous
Annotators
URL
-
-
www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu
-
P11
Case: P11, M/19
DiseaseAssertion: VWD1
FamilyInfo: No family history
ParentalGenotype: NA
CaseHPOFreeText: The bleeding score was 3, aPTT was 49 seconds, FVIII:C was 29%, VWF:RCo was 42 IU/dL, and VWF:Ag was 58 IU/dL, with a VWF:RCo/VWF:Ag ratio of 0.7. The VWF multimer pattern was normal, RIPA was not tested, and the platelet count was 234 × 10⁹/L.
CasePreviousTesting: NA
GenotypingMethod: Direct sequencing of all exons, flanking intronic sequences, and the promoter of VWF was performed.
Gene: VWF
Variant: c.2289dupG, p.S764Efs*16 — heterozygous
HGVS: NM_000552.5(VWF):c.2289dup (p.Ser764GlufsTer16)
ClinVar:
CAID: CA2695215960
gnomAD: absent from gnomad v4.1.o
-
P9
Case: P9, M/26
DiseaseAssertion: VWD1
FamilyInfo: No family history
ParentalGenotype: NA
CaseHPOFreeText: The bleeding score was 1, aPTT was 44 seconds, FVIII:C was 9%, VWF:RCo was 13 IU/dL, and VWF:Ag was 6 IU/dL, with a VWF:RCo/VWF:Ag ratio of 2.0. The VWF multimer pattern was normal, RIPA was 3 ohms, and the platelet count was 217 × 10⁹/L.
CasePreviousTesting: NA
GenotypingMethod: Direct sequencing of all exons, flanking intronic sequences, and the promoter of VWF was performed.
Gene: VWF
Variant: c.3614G>A, p.R1205H — heterozygous
HGVS: NM_000552.5(VWF):c.3614G>A (p.Arg1205His)
ClinVar: 308
CAID: CA114160
gnomAD: https://gnomad.broadinstitute.org/variant/chr12-6021960-C-T?dataset=gnomad_r4
-
P8
Case: P8, M/32
DiseaseAssertion: VWD1
FamilyInfo: Positive family history, no details provided.
ParentalGenotype: NA
CaseHPOFreeText: The bleeding score was 7, aPTT was 39 seconds, FVIII:C was 10%, VWF:RCo was 14 IU/dL, and VWF:Ag was 13 IU/dL, resulting in a VWF:RCo/VWF:Ag ratio of 1.1. The VWF multimer pattern showed a mild loss of high molecular weight multimers, RIPA was not tested, and the platelet count was 286 × 10⁹/L.
CasePreviousTesting: NA
GenotypingMethod: Direct sequencing of all exons, flanking intronic sequences, and the promoter of VWF was performed.
Gene: VWF
Variant: c.2665T>C, p.C889R — heterozygous
HGVS: NM_000552.5(VWF):c.2665T>C (p.Cys889Arg)
ClinVar:
CAID: CA383519992
gnomAD: absent from gnomad v4.1.0
-
P6
Case: P6, F/7
DiseaseAssertion: VWD1
FamilyInfo: No family history
ParentalGenotype: NA
CaseHPOFreeText: The bleeding score was 5, aPTT was 29 seconds, FVIII:C was 71%, VWF:RCo was 19 IU/dL, and VWF:Ag was 19 IU/dL, with a VWF:RCo/VWF:Ag ratio of 1.0. The VWF multimer pattern was normal, RIPA was not tested, and the platelet count was 475 × 10⁹/L.
CasePreviousTesting: NA
GenotypingMethod: Direct sequencing of all exons, flanking intronic sequences, and the promoter of VWF was performed.
Gene: VWF
Variant: no mutation detected
HGVS:
ClinVar:
CAID:
gnomAD:
-
P10
Case: P10, M/2
DiseaseAssertion: VWD1
FamilyInfo: No family history
ParentalGenotype: NA
CaseHPOFreeText: The bleeding score was 1, aPTT was 33 seconds, FVIII:C was 96%, VWF:RCo was 30 IU/dL, and VWF:Ag was 36 IU/dL, resulting in a VWF:RCo/VWF:Ag ratio of 0.8. The VWF multimer pattern was normal, RIPA was not tested, and the platelet count was 222 × 10⁹/L.
CasePreviousTesting: NA
GenotypingMethod: Direct sequencing of all exons, flanking intronic sequences, and the promoter of VWF was performed.
Gene: VWF
Variant: c.3835G>A, p.V1279I — heterozygous
HGVS: NM_000552.5(VWF):c.3835G>A (p.Val1279Ile)
ClinVar: 100288
CAID: CA228459
gnomAD: https://gnomad.broadinstitute.org/variant/chr12-6019583-C-T?dataset=gnomad_r4
Tags
- CAID: CA383519992
- Mutation:Missense
- Zygosity:Heterozygous
- inferred_gene_source:Gene_Name
- InheritancePattern:AutosomalDominant
- ClinVar: 308
- ClinGen VWF
- CAID: CA114160
- CAID: CA228459
- ClinVar: 100288
- inferred_gene_hgnc:12726
- inferred_gene_source:CAID
- CAID: CA2695215960
- Mutation:Frameshift
- DiseaseEntity:VWD1
Annotators
URL
-
-
www.thieme-connect.com www.thieme-connect.com
-
30
Case: IP #30
DiseaseAssertion: type 2A VWD
FamilyInfo:
ParentalGenotype(s):
CasePresentingHPOs:
CaseHPOFreeRext: VWF:Ag [IU/dL] = 15; VWF:Ac [IU/dL] = 6; FVIII:C [IU/dL] = 28
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting:
GenotypingMethod: Sequence variations in the VWF were identified through direct sequencing, while the detection of large rearrangements utilized the multiplex ligation-dependent probe amplification (MLPA) technique or assessed copy number variations (CNVs). Sanger sequencing methodology was applied for VWF analysis in patients investigated prior to 2016 (approximately 14% of IPs), whereas next-generation sequencing (NGS) was employed for the analysis of VWF in patients inspected from 2017 onwards (about 86% of IPs). In both strategies, the entire VWF, encompassing all 52 exons, intron/exon boundaries, and promoter regions, was analyzed.
PreviouslyPublished:
Gene: VWF
Variant: c.4151T>G p.Leu1384Arg
HGVS:
ClinVarID: not found
CAID: CA383504381
gnomAD: absent
-
16 Type2A (IIE)c.3433C>T p.Arg1145Cys 26 D3-C8-3htz Missense na 65 39 78
Case: IP #16
DiseaseAssertion: type 2A (IIE) VWD
FamilyInfo:
ParentalGenotype(s):
CasePresentingHPOs:
CaseHPOFreeRext: VWF:Ag [IU/dL] = 65; VWF:Ac [IU/dL] = 39; FVIII:C [IU/dL] = 78
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting:
GenotypingMethod: Sequence variations in the VWF were identified through direct sequencing, while the detection of large rearrangements utilized the multiplex ligation-dependent probe amplification (MLPA) technique or assessed copy number variations (CNVs). Sanger sequencing methodology was applied for VWF analysis in patients investigated prior to 2016 (approximately 14% of IPs), whereas next-generation sequencing (NGS) was employed for the analysis of VWF in patients inspected from 2017 onwards (about 86% of IPs). In both strategies, the entire VWF, encompassing all 52 exons, intron/exon boundaries, and promoter regions, was analyzed.
PreviouslyPublished:
Gene: VWF
Variant: c.3433C>T p.Arg1145Cys
HGVS:
ClinVarID: not found
CAID: CA383511379
gnomAD: absent
-
7 Type 2A c.2546 þ 1G > A Nc.5092G > T Np.Gly1698Cys 1929D’A3htzhtzSplice SiteMissenseO 27 16 31
Case: 7 (also in row 2 splice variants table 6)
DiseaseAssertion: type 2A VWD
FamilyInfo:
ParentalGenotype(s):
CasePresentingHPOs: HP:0032442 - blood group O
CaseHPOFreeRext: VWF:Ag [IU/dL] = 27; VWF:Ac [IU/dL] = 16; FVIII:C [IU/dL] = 31
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting:
GenotypingMethod: Sequence variations in the VWF were identified through direct sequencing, while the detection of large rearrangements utilized the multiplex ligation-dependent probe amplification (MLPA) technique or assessed copy number variations (CNVs). Sanger sequencing methodology was applied for VWF analysis in patients investigated prior to 2016 (approximately 14% of IPs), whereas next-generation sequencing (NGS) was employed for the analysis of VWF in patients inspected from 2017 onwards (about 86% of IPs). In both strategies, the entire VWF, encompassing all 52 exons, intron/exon boundaries, and promoter regions, was analyzed.
PreviouslyPublished:
Gene: VWF
Variant: c.2546+1G > A
HGVS:
ClinVarID: not found
CAID: CA383520269
gnomAD: 0.000001239 (2 in 1614166) no homozygotes https://gnomad.broadinstitute.org/variant/12-6036387-C-T?dataset=gnomad_r4
MultipleGeneVariants:
Gene: VWF
Variant: c.5092G > T p.Gly1698Cys
CAID: CA383496674
gnomAD: 6.196e-7 (1 in 1613980) no homozygotes https://gnomad.broadinstitute.org/variant/chr12-6016832-C-A?dataset=gnomad_r4
-
8 Type 2A /2N c.2561G > Ac.4811T > A Np.Arg854Glnp.Val1604Asp2028D’-E’A2htzhtzMissenseMissenseA 16 8 12
Case: 8 (also in row 21 table 6)
DiseaseAssertion: type 2A/2N VWD
FamilyInfo:
ParentalGenotype(s):
CasePresentingHPOs: HP:0032370 - blood group A
CaseHPOFreeRext: VWF:Ag [IU/dL] = 16; VWF:Ac [IU/dL] = 8; FVIII:C [IU/dL] = 12
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting:
GenotypingMethod: Sequence variations in the VWF were identified through direct sequencing, while the detection of large rearrangements utilized the multiplex ligation-dependent probe amplification (MLPA) technique or assessed copy number variations (CNVs). Sanger sequencing methodology was applied for VWF analysis in patients investigated prior to 2016 (approximately 14% of IPs), whereas next-generation sequencing (NGS) was employed for the analysis of VWF in patients inspected from 2017 onwards (about 86% of IPs). In both strategies, the entire VWF, encompassing all 52 exons, intron/exon boundaries, and promoter regions, was analyzed.
PreviouslyPublished:
Gene: VWF
Variant: c.2561G>A p.Arg854Gln
HGVS:
ClinVarID: 296
CAID:
gnomAD: 0.004956 (8000 in 1614214) 26 homozygotes https://gnomad.broadinstitute.org/variant/12-6034812-C-T?dataset=gnomad_r4
MultipleGeneVariants:
Gene: VWF
Variant: c.4811T>A p.Val1604Asp
CAID: CA383499144
gnomAD: absent
-
42 U c.7645T > C N p.Cys2549Arg 45 C4 htz Missense O 9 16 41
Case: IP #42 in type U VWD sub-cohort (also in row 26 table 6)
DiseaseAssertion: unclassified VWD
FamilyInfo:
ParentalGenotype(s):
CasePresentingHPOs: HP:0032442 - blood group O
CaseHPOFreeRext: VWF:Ag [IU/dL] = 9; VWF:Ac [IU/dL] = 16; FVIII:C [IU/dL] = 41
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting:
GenotypingMethod: Sequence variations in the VWF were identified through direct sequencing, while the detection of large rearrangements utilized the multiplex ligation-dependent probe amplification (MLPA) technique or assessed copy number variations (CNVs). Sanger sequencing methodology was applied for VWF analysis in patients investigated prior to 2016 (approximately 14% of IPs), whereas next-generation sequencing (NGS) was employed for the analysis of VWF in patients inspected from 2017 onwards (about 86% of IPs). In both strategies, the entire VWF, encompassing all 52 exons, intron/exon boundaries, and promoter regions, was analyzed.
PreviouslyPublished:
Gene: VWF
Variant: c.7645T>C p.Cys2549Arg
HGVS:
ClinVarID: not found
CAID: CA383489376
gnomAD: absent
-
2 c.3847G > A N p.Asp1283Asn 28 A1 htz Missense A 45 9 70 CSA 38
Case: IP #2 in type 2M VWD sub-cohort (also in row 12 table 6)
DiseaseAssertion: type 2M VWD
FamilyInfo:
ParentalGenotype(s):
CasePresentingHPOs: HP:0032370 - blood group A
CaseHPOFreeRext: VWF:Ag [IU/dL] = 45; VWF:Ac [IU/dL] = 9; FVIII:C [IU/dL] = 70; VWF:CB (IU/dL) = 38
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting:
GenotypingMethod: Sequence variations in the VWF were identified through direct sequencing, while the detection of large rearrangements utilized the multiplex ligation-dependent probe amplification (MLPA) technique or assessed copy number variations (CNVs). Sanger sequencing methodology was applied for VWF analysis in patients investigated prior to 2016 (approximately 14% of IPs), whereas next-generation sequencing (NGS) was employed for the analysis of VWF in patients inspected from 2017 onwards (about 86% of IPs). In both strategies, the entire VWF, encompassing all 52 exons, intron/exon boundaries, and promoter regions, was analyzed.
PreviouslyPublished:
Gene: VWF
Variant: c.3847G>A p.Asp1283Asn
HGVS:
ClinVarID: not found
CAID: CA383506815
gnomAD: absent
Tags
- CAID:CA383499144
- CAID:CA383504381
- CAID:CA383511379
- Mutation:Missense
- CAID:CA383520269
- CAID:CA383506815
- DiseaseEntity:VWD2M
- ClinGen VWF
- CAID:CA383489376
- ClinVarID:296
- DiseaseEntity:VWD2A
- InheritancePattern:NoInheritanceAssertion
- DiseaseEntity:VWD
- Mutation:Intronic
- CAID:CA383496674
- inferred_gene_hgnc:12726
- inferred_gene_source:CAID
- DiseaseEntity:VWD2N
- Zygosity:CompoundHeterozygous
- Zygosity:Heterozygous
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Type 2B von Willebrand disease with or without large multimers: A distinction of the two sides of the disorder is long overdue
PMID: 28640903
Gene: VWF
HGNCID: 12726
-
9
Case: Patient 9 (Family B), male, 71yo
DiseaseAssertion: VWD2B
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0030132, HP:0030129, HP:0030130, HP:0011871, HP:0012147
(Absence of large von Willebrand factor multimers, impaired ristocetin cofactor assay activity, Impaired von Willebrand factor collagen binding activity, Impaired RIPA, Reduced quantity of VWF)
CaseHPOFreeText: blood group O, Platelet count x103/μl = 56, PFA 100 sec = >300, SPA % = 22, MADR mg/mL = 0.3, VWF:Ag U/dL = 81.2, VWF:CB U/dL = 25.9, VWF:CB ratio = 0.32, VWF:RCo U/dL = 33.75, VWF:RCo ratio = 0.41, Platelet VWF U/dL = 146.2, FVIII U/dL = 52, BAT F/M = NA
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: Sequencing of exon 28 of VWF
PreviouslyPublished: NA
Gene: VWF
Variant: c.3922C>T (p.Arg1308Cys)
HGVS: NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys)
ClinVarID: 289; https://www.ncbi.nlm.nih.gov/clinvar/variation/289/
CAID: NA
gnomAD: absent
-
3
Case: Patient 3 (Family B), male, 55yo
DiseaseAssertion: VWD2B
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs: HP:0030129, HP:0030130, HP:0011871, HP:0012147
(impaired ristocetin cofactor assay activity, Impaired von Willebrand factor collagen binding activity, Impaired RIPA, Reduced quantity of VWF)
CaseHPOFreeText: blood group O, Platelet count x103/μl = 204, PFA 100 sec = >300, SPA % = 0, MADR mg/mL = 0.45, VWF:Ag U/dL = 23.4, VWF:CB U/dL = 21.1, VWF:CB ratio = 0.9, VWF:RCo U/dL = 17.2, VWF:RCo ratio = 0.74, Platelet VWF U/dL = 42.6, FVIII U/dL = 60.5, BAT F/M = 20
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting: NA
GenotypingMethod: Sequencing of exon 28 of VWF
PreviouslyPublished: NA
Gene: VWF
Variant 1: c.3797C>T (p.Pro1266Leu)
HGVS: NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu)
ClinVarID: 314; https://www.ncbi.nlm.nih.gov/clinvar/variation/314/
CAID: NA
gnomAD: MAF = 0.003667 (92/25086 alleles; 1 homozygote) in the European (Finnish) population; https://gnomad.broadinstitute.org/variant/12-6128787-G-A?dataset=gnomad_r2_1
Variant 2: c.7085G>T (p.Cys2362Phe)
HGVS: NM_000552.4(VWF):c.7085G>T (p.Cys2362Phe)
ClinVarID: 315; https://www.ncbi.nlm.nih.gov/clinvar/variation/315/
CAID: NA
gnomAD: absent
Tags
- ClinVarID:289
- DiseaseEntity:VWD2B
- Mutation:Missense
- inferred_gene_source:Gene_Name
- InheritancePattern:AutosomalDominant
- InheritancePattern:AutosomalRecessive
- ClinGen VWF
- Individual
- ClinVarID:315
- inferred_gene_hgnc:12726
- CaseInfo
- ClinVarID:314
- General
- ClinGen
- inferred_gene_source:HGNC_body
- Zygosity:CompoundHeterozygous
- Gene:VWF
- Zygosity:Heterozygous
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
p.P1162L
Case#: p.P1162L, Female, Age 52, African American
Disease Assertion: Normal Variant
Family Info: Two family members tested with normal clinical phenotype
Parental Genotype: Not listed
CasePresentingHPOs:
CaseHPOFreeText: VWF:RCo/VWF:Ag Ratio 0.50, VWF:GPIbM 98
CaseNotHPOs: HP:0040240
(Increased Ratio of VWF Propeptide to VWF antigen)
CaseNotHPOFreeText:bleeding score 2, VWF:Ag 144 IU/dL, VWF:RCo 72 IU/dL, normal multimer distribution
ProteinExpression:
CasePreviousTesting: VWF Sequencing
Gene:VWF
Variant: NM_000552.4(VWF):c.3485C>T (p.Pro1162Leu)
ClinVar: 256669 ClinVarID
CAID: CA6402756
gnomAD: MAF of 0.2207 (2023/9166 alleles) in the African American population.
-
p.I1453N
Case#: p.I1453N, Male, Age 25, Caucasian
Disease Assertion: VWD2M
FamilyInfo: No affected family members enrolled in study
Parental Genotype: Not listed
CasePresentingHPOs: N/A
CaseHPOFreeText: bleeding score 11, VWF:RCo/VWF:Ag ratio 0.55, VWF:Ag 20 IU/dL, VWF:RCo 11 IU/dL,
CaseNotHPOs:HP:0040240
(Increased Ratio of VWF Propeptide to VWF antigen)
CaseNotHPOFreeText: Normal multimer distribution
Protein Expression: N/A
CasePreviousTesting: VWF sequencing
Gene: VWF
Variant: NM_000552.4:c.4358T>A (p.Ile1453Asn)
ClinVar: N/A
CAID: CA383502477
gnomAD: N/A
-
p.D1283Y
Case#: p.D1283Y, Female, Age 85, Caucasian
Disease Assertion: VWD2M
FamilyInfo: Single affected family member with similar bleeding score
Parental Genotype: Not listed
CasePresentingHPOs:
CaseHPOFreeText: VWF:RCo/ VWF:Ag ratio 0.34, bleeding score 12, VWF:RCo 12 IU/dL, VWF:Ag 25 IU/dL
CaseNotHPOs: HP:0040240
(Increased Ratio of VWF Propeptide to VWF antigen)
CaseNotHPOFreeText: Normal multimer distribution
Protein Expression: N/A
CasePreviousTesting: VWF Sequencing
Gene: VWF
Variant: NM_000552.4:c.3847G>T (p.Asp1283Tyr)
ClinVar: N/A
CAID: CA383506819
gnomAD: N/A
-
Clinical and Laboratory Phenotype Variability in Type 2M Von Willebrand Disease
PMID: 28544236
Gene VWF
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
II‐2
Variant: c.823T>C p.Cys275Arg - used family membevr III-2 as proband for PP4
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Case#: 35003, Age 75, Female, Blood Type A- (Table S3)
Disease Assertion: VWD 1
FamilyInfo: The patient is one of two members in Family# 3502.
Parental Genotype: Not listed
CasePresentingHPOs: N/A
CaseHPOFreeText: VWF:Ag: 6.6, VWF:RCo: 8.5, FVIII:C:13, VWF:CB: 11
CaseNotHPOs: N/A
CaseNotHPOFreeText: Bleeding Score 2
Protein Expression: N/A
CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations.
Gene: VWF
Variant: NM_000552.4:c.3614G>A (p.Arg1205His)
ClinVar: 308 ClinVar
CAID: CA114160 CAID
gnomAD: N/A
-
Case#: 13001, Age 61, Female, Blood Type O+ (Table S3)
Disease Assertion: VWD 1
FamilyInfo: The patient was the only member of Family# 1301.
Parental Genotype: Not listed
CasePresentingHPOs: N/A
CaseHPOFreeText: Bleeding Score 27, VWF:Ag: 11, VWF:RCo: 9.7, FVIII:C: 36, VWF:CB: 12
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
Protein Expression: N/A
CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations
Gene: VWF
Variant: NM_000552.4:c.7985A>G
ClinVar: N/A
CAID: CA383487641 CAID
gnomAD: N/A
-
Case#: 02042, Age 41, Male, Blood Type: O+ (Table S3)
Disease Assertion: VWD 1
FamilyInfo: Family#: 0215; 5 Members of the family were included in the study. 1 was diagnosed type 3 (patient 02039) and the other 4 were carriers for VW
Parental Genotype: Not listed
CasePresentingHPOs:
CaseHPOFreeText: VWF:Ag: 25, VWF:RCo: 21, FVIII:C:77, VWF:CB: 27
CaseNotHPOs:
CaseNotHPOFreeText: Bleeding score 1
Protein Expression:
CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations.
Gene: VWF
Variant: NM_000552.4:c.1109G>A
ClinVar: N/A
CAID:CA6403559
gnomAD: MAF of 0.000008802 (1/113608 alleles) in the European (non-Finnish population). gnomAD
-
Case#: 02074, Age 37, Female, Blood Type A+ (Table S3)
Disease Assertion: VWD 1
FamilyInfo: Patient was the only member of family #0228.
Parental Genotype: Not listed
CasePresentingHPOs: N/A
CaseHPOFreeText: Bleeding Score 3, VWF:Ag: 24, VWF:RCo: 21, FVIII:C: 111, VWF:CB: 29
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
Protein Expression: N/A
CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations
Gene: VWF
Variant: NM_000552.4(VWF):c.3426T>C (p.Cys1142=), NM_000552.4:c.6254G>T (p.Cys2085Phe), and NM_000552.4:c.3485_3486inv (p.Pro1162Leu)
ClinVar: 256668 and 619934 ClinVar ClinVar2
CAID: CA6402757, CA383492060, and CA658683073
gnomAD: MAF of 0.2228 (2240/10052 alleles) in the African population (CA6402757).
-
Case#: 27032, Age 49, Female, Blood Type O+
Disease Assertion: VWD 1
FamilyInfo: The patient is one of two members of Family#2716. The other member has the same variant, but is only a carrier.
Parental Genotype: Not listed
CasePresentingHPOs: N/A
CaseHPOFreeText: Bleeding Score 8, VWF:Ag:31, VWF:RCo: 22.7, FVIII:C: 72, VWF:CB: 38
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
Protein Expression: N/A
CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations.
Gene: VWF
Variant: NM_000552.4:c.2518G>T (p.Glu840Ter)
ClinVar: N/A
CAID:CA383520331 CAID
gnomAD: N/A
-
Case#: 06012, Age 10, Male, Blood Type O+ (Table S3)
Disease Assertion: VWD1
FamilyInfo: Patient is member of Family# 0609, which includes 3 individuals. All members of the family have the same variant.
Parental Genotype: Not listed
CasePresentingHPOs: N/A
CaseHPOFreeText: Bleeding score 10, VWF:Ag: 13, VWF:RCo:14, FVIII:C:40, VWF:CB:13
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
Protein Expression: N/A
CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations.
Gene: VWF
Variant: NM_000552.4:c.3363G>T (p.Arg1121Ser)
ClinVar: N/A
CAID: CA383511875 CAID
gnomAD: N/A
-
Case#: 02064, Age 32, Male, Blood type O- (Table S3)
Disease Assertion: VWD 1
FamilyInfo: Patient is a part of family # 0224. There are 3 other members of the family (02065, 02066, 02067). All members of the family have the same variant.
Parental Genotype: Not listed
CasePresentingHPOs: N/A
CaseHPOFreeText: Bleeding score 13, VWF:Ag: 4.7, VWF:RCo: 5, FVIII:C: 16, VWF:CB:6
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
Protein Expression: N/A
CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations
Gene:VWF
Variant: NM_000552.4:c.3614G>A (p.Arg1205His)
ClinVar: 308
CAID: CA114160
gnomAD: N/A
-
Case#: 27024, Age 56, Female, Blood Type A+ (Table S3)
Disease Assertion: VWD 1
FamilyInfo: The patient is the only member of Family#2713.
Parental Genotype: Not listed
CasePresentingHPOs: N/A
CaseHPOFreeText: VWF:Ag:5.3, VWF:RCo:6, FVIII:C:38, VWF:CB:4.2
CaseNotHPOs: N/A
CaseNotHPOFreeText: Bleeding Score 3
Protein Expression: N/A
CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations.
Gene: VWF
Variant: NM_000552.4:c.3467C>T (p.Thr1156Met) and c.-3151T>G
ClinVar: 100264 ClinVar
CAID: CA228414 CAID
gnomAD: N/A
-
Case#: 06024, Age 36, Female, Blood Type O+ (Table S3)
Disease Assertion: VWD1
FamilyInfo: The patient is the only member of Family#0617.
Parental Genotype: Not listed
CasePresentingHPOs: N/A
CaseHPOFreeText: Bleeding Score 1, VWF:Ag:35, VWF:RCo:25, FVIII:C:69, VWF:CB: 27
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
Protein Expression:N/A
CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations
Gene: VWF
Variant: NM_000552.4:c.7300C>T (p.Arg2434Ter)
ClinVar: 100464 ClinVar
CAID: CA228781 CAID
gnomAD: MAF of 0.0001298 (2/15414 alleles) in the European (non-Finnish) population. gnomAD
-
Case#: 02058, Age 64, Female, Blood type A+ (Table S3)
Disease Assertion: VWD1
FamilyInfo: Patient is the only member of family #0221.
Parental Genotype: Not listed
CasePresentingHPOs: N/A
CaseHPOFreeText: Bleeding score 19, VWF:Ag: 7.3, VWF:RCo: 5.9, FVIII:C: 19, VWF:CB: 6.3
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
Protein Expression: N/A
CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations.
Gene: VWF
Variant: NM_000552.4:c.3614G>A (p.Arg1205His)
ClinVar: 308 ClinVar
CAID: CA114160 CAID
gnomAD: N/A
-
Case#: 03035, Age 51, Male (Table S3)
Disease Assertion: VWD1
FamilyInfo: A part of family #03150 along with two other patients.
Parental Genotype: Not listed
CasePresentingHPOs: Not listed
CaseHPOFreeText: Bleeding Score 4, VWF:Ag: 34, VWF:RCo: 26, FVIII:C: 43, VWF:CB 33
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
Protein Expression:N/A
CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations
Gene: VWF
Variant: NM_000552.4:c.3467C>T (p.Thr1156Met) and NM_000552.3:c.-3151T>G
ClinVar: 100264 ClinVar
CAID: CA228414 CAID
gnomAD: N/A
-
Case#: 32002, Age 49, Female, Blood Type +
Disease Assertion: VWD 1
FamilyInfo: The patient is the only member of Family# 3202.
Parental Genotype: Not listed
CasePresentingHPOs: N/A
CaseHPOFreeText: VWF:Ag: 34, VWF:RCo: 30, FVIII:C: 53, VWF:CB: 29
CaseNotHPOs: N/A
CaseNotHPOFreeText: Bleeding Score 3
Protein Expression: N/A
CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations.
Gene: VWF
Variant: NM_000552.4:c.7408C>T (p.Gln2470Ter)
ClinVar: 100469 ClinVar
CAID: CA228790 CAID
gnomAD: MAF of 0.00002891 (1/34590 alleles) in the Latino population.
-
Case#: 06007, Age 54, Male, Blood Type O+ (Table S3)
Disease Assertion: VWD
FamilyInfo: Two total patients were documented from family# 0606.
Parental Genotype: Not listed
CasePresentingHPOs: N/A
CaseHPOFreeText: VWF:Ag: 28, VWF:RCo: 26.1, FVIII:C: 56, VWF:CB: 23
CaseNotHPOs: N/A
CaseNotHPOFreeText: Bleeding Score 5
Protein Expression: N/A
CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations
Gene: VWF
Variant: NM_000552.4:c.1156+2T>C (intronic)
ClinVar: N/A
CAID: CA383504978 CAID
gnomAD: N/A
-
Case#: 18001, Age 50, Male, Blood Type B+ (Table S3)
Disease Assertion: VWD 1
FamilyInfo: The patient one of 3 members of Family#1801. All of the patients have the same variant.
Parental Genotype: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: VWF:Ag:10, VWF:RCo:6.1, FVIII:C:17, VWF:CB:8.2
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
Protein Expression: N/A
CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations
Gene: VWF
Variant: NM_000552.4:c.3614G>A (p.Arg1205His) and NM_000552.4:c.6989T>G (p.Val2330Gly)
ClinVar: 308 ClinVar1
CAID: CA114160 and CA6401808 CAID1 CAID2
gnomAD: MAF of 0.000008823 (1/113342 alleles) in the European (non-Finnish population) (CA6401808) gnomAD
-
Case#: 36008, Age 34, Female, Blood Type O+ (Table S3)
Disease Assertion: VWD 1
FamilyInfo: The patient is the only member of Family#3606.
Parental Genotype: Not listed
CasePresentingHPOs: N/A
CaseHPOFreeText: Bleeding Score 8, VWF:Ag: 34, VWF:RCo:14, FVIII:C: 37, VWF:CB: 25
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
Protein Expression: N/A
CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations.
Gene: VWF
Variant: NM_000552.4:c.2771G>A(p.Arg924Gln) and NM_000552.4:c.3390C>T (p.Cys1130=)
ClinVar: 627186 ClinVar
CAID: CA228368 and CA478101454 CAID1 CAID2
gnomAD: MAF of 0.01866 (2411/ 129182 alleles) in the European (non-Finnish) population (CA228368). gnomAD
-
Case#: 02052, Age 25, Male, Blood type A+ (Table S3)
Disease Assertion: VWD 1
FamilyInfo: Patient is the only family member of family # 0220
Parental Genotype: Not listed
CasePresentingHPOs:N/A
CaseHPOFreeText: Bleeding Score: 11, VWF:Ag: 15, VWF:RCO:12, FVIII:C:20, VWF:CB: 16
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
Protein Expression: N/A
CasePreviousTesting: 48,48 Access-Array amplification. NGS Molecular analysis was performed. Sanger sequencing was used to validate selected mutations.
Gene: VWF
Variant: NM_000552.4:c.1625C>G (p.Ala542Gly) and NM_000552.4:c.6187C>T (p.Pro2063Ser)
ClinVar: 381621 and 100436 ClinVar1
CAID: CA6403319 and CA202650 CAID1
gnomAD: MAF of 0.001355 (48/ 35418 alleles) in the Latino population (CA6403319). MAF of 0.04854 (1486/ 30616 alleles) in the South Asian Population (CA202650).
Tags
- CAID:CA6403319
- CAID:CA6403559
- ClinVar:308
- ClinVar:100464
- CAID:CA202650
- SupplementalData
- Mutation:Missense
- Zygosity: Homozygous
- CAID:CA228414
- ClinVar:100436
- CAID:CA383520331
- CAID:CA383487641
- Individual
- CAID:CA228368
- ClinVar:256668
- ClinVar:100264
- ClinVar:627186
- CaseInfo
- ClinVar: 381621
- CAID:CA6402757
- Zygosity:Heterozygous
- ClinVar:619934
- UnregisteredVariant
- Mutation:Nonsense
- ClinGen VWF
- CAID:CA114160
- CAID:CA478101454
- ClinVar:100469
- CAID:CA6401808
- CAID:CA658683073
- InheritancePattern:NoInheritanceAssertion
- CAID:CA228790
- CAID:CA383504978
- Mutation:Intronic
- inferred_gene_hgnc:12726
- inferred_gene_source:CAID
- CAID:CA383511875
- Mutation:Upstream
- Gene:VWF
- DiseaseEntity:VWD1
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients
PMID: 35064738
Gene: VWF
HGNCID: 12726
-
-
www.sciencedirect.com www.sciencedirect.com
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T086M/130.010.020.01c.1A>G, c.2377C>Tp.Met1Val, p.Gln793*2/18Compound heterozygous
Case: T086, M, 1
DiseaseAssertion: VWD type 3
FamilyInfo: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: Bleeding Score: 3 (Kruskal–Wallis followed by Mann–Whitney U post-hoc testing Post-hoc testing ), VWF:Ag (IU/ml): 0.01, VWF:RCo (IU/ml): 0.02, FVIII:C (IU/ml): 0.01
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.1A>G (p.Met1Val), Exon 2
c.2377C>T (p.Gln793*), Exon 18
Compound Heterozygous
Note: ELISA-based assay for detecting alloantibodies, genomic analysis via sequencing of leukocytes for the VWF gene including exons 1-52 and about 1.5 km of VWF promoter, PCR amplification for variant confirmation, SALSA-MLPAVWF assay evaluation for partial/total gene deletions when sequencing did not reveal pathogenic explanation
-
T050F/21240.010.000.01c.876delC, c.1255C>Tp.Ser293 fs, p.Gln419*8/11Compound heterozygous
Case: T050, F, 21
DiseaseAssertion: VWD type 3
FamilyInfo: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: Bleeding Score: 24 (Kruskal–Wallis followed by Mann–Whitney U post-hoc testing Post-hoc testing ), VWF:Ag (IU/ml): 0.01, VWF:RCo (IU/ml): 0.00, FVIII:C (IU/ml): 0.01
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.876delC (p.Ser293 fs), Exon 8
c.1255C>T (p.Gln419*), Exon 11
Compound heterozygous
Note: ELISA-based assay for detecting alloantibodies, genomic analysis via sequencing of leukocytes for the VWF gene including exons 1-52 and about 1.5 km of VWF promoter, PCR amplification for variant confirmation, SALSA-MLPAVWF assay evaluation for partial/total gene deletions when sequencing did not reveal pathogenic explanation
-
The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles
PMID: 23311757 Gene: von Willebrand factor HGNCID: 12726
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T090M/280.010.040.01c.1117C>T, gene conversion (c.3931C>T, c.4027A>G, c.4079T>C, c.4105T>A)p.Arg373*, p.Gln1311*, p.Ile1343Val, p.Val1360Ala, p.Phe1369Ile10/28Compound heterozygous
Case: T090, M, 2
DiseaseAssertion: VWD type 3
FamilyInfo: inherited heterozygous gene conversion from the father
CasePresentingHPOs: n/a
CaseHPOFreeText: Bleeding Score: 8 (Kruskal–Wallis followed by Mann–Whitney U post-hoc testing Post-hoc testing ), VWF:Ag (IU/ml): 0.01, VWF:RCo (IU/ml): 0.04, FVIII:C (IU/ml): 0.01
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.1117C>T (p.Arg373*)
Gene Conversion (
c.3931C>T (p.Gln1311*)
c.4027A>G (p.Ile1343Val)
c.4079T>C (p.Val1360Ala)
c.4105T>A (p.Phe1369Ile)
)
Exon 10/28
Compound heterozygous
Note: ELISA-based assay for detecting alloantibodies, genomic analysis via sequencing of leukocytes for the VWF gene including exons 1-52 and about 1.5 km of VWF promoter, PCR amplification for variant confirmation, SALSA-MLPAVWF assay evaluation for partial/total gene deletions when sequencing did not reveal pathogenic explanation
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T078F/590.010.030.01c.5455 + 2 T>C-31Homozygous
Case: T078, F, 5
DiseaseAssertion: VWD type 3
FamilyInfo: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: Bleeding Score: 9 (Kruskal–Wallis followed by Mann–Whitney U post-hoc testing Post-hoc testing ), VWF:Ag (IU/ml): 0.01, VWF:RCo (IU/ml): 0.03, FVIII:C (IU/ml): 0.01
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.5455 + 2 T>C, Exon 31, Homozygous
Note: ELISA-based assay for detecting alloantibodies, genomic analysis via sequencing of leukocytes for the VWF gene including exons 1-52 and about 1.5 km of VWF promoter, PCR amplification for variant confirmation, SALSA-MLPAVWF assay evaluation for partial/total gene deletions when sequencing did not reveal pathogenic explanation
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T028M/34160.010.010.03c.7730-1 G>T, c.7906A>T-, p.Asn7906Tyr46/48HomozygousHeterozygous
Case: T028, M, 34
DiseaseAssertion: VWD type 3
FamilyInfo: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: Bleeding Score: 16 (Kruskal–Wallis followed by Mann–Whitney U post-hoc testing Post-hoc testing ), VWF:Ag (IU/ml): 0.01, VWF:RCo (IU/ml): 0.01, FVIII:C (IU/ml): 0.03
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.7730-1 G>T, Exon 46, Homozygous
c.7906A>T (p.Asn7906Tyr), Exon 48, Heterozygous
Note: ELISA-based assay for detecting alloantibodies, genomic analysis via sequecning of leukocytes for the VWF gene including exons 1-52 and about 1.5 km of VWF promoter, PCR amplification for variant confirmation, SALSA-MLPAVWF assay evaluation for partial/total gene deletions when sequencing did not reveal pathogenic explanation
Tags
- Zygosity:Homozygous
- CAID:CA228533
- CAID:CA228496
- CAID:CA383510938
- Mutation:Missense
- CAID:CA383494775
- DiseaseEntity:VWD3
- Mutation:Nonsense
- CAID:CA228520
- ClinGen VWF
- CAID:CA383487820
- CAID:CA383489188
- Mutation:Frameshift
- CAID:CA228526
- CAID:CA383522113
- CAID:CA2575054279
- Mutation:Intronic
- CAID:CA232314778
- inferred_gene_hgnc:12726
- inferred_gene_source:CAID
- CAID:CA228261
- inferred_gene_source:HGNC_body
- Zygosity:CompoundHeterozygous
- Zygosity:Heterozygous
Annotators
URL
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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11 H
Case: Patient 11, Family H (Table 1.), M/71, Afro-Caribbean
DiseaseAssertion: VWD2A (IIE)
FamilyInfo: Patient 12 (F/99, Afro-Caribbean) also from Family H. (Table 1.)
ParentalGenotype(s): NA
CasePresentingHPOs:
CaseHPOFreeRext: BAT =15, FVIII:C (IU/dL) = 30, VWF:Ag (IU/dL) = 15, VWF:Act (IU/dL) = 7
CaseNOTHPOs:
CaseNOTHPOFreeText: Blood group O+
CasePreviousTesting:
GenotypingMethod: All samples were analyzed by captured-based high throughput sequencing which was performed with a custom-design of the VWF gene provided by Twist BioScience (San Francisco, USA). It comprised all 52 exons, intronic flanking regions, promoter and 3’UTR region of the VWF gene. Libraries were prepared by using the Twist NGS target enrichment solution (Twist BioScience) according to the manufacturer protocol. Samples were analyzed on a NovaSeq 6000 sequencer (Illumina) with a median read depth of 2500X by using the 300-cycle S1 NovaSeq 6000seq reagent kit with 150-bp paired-end reads. The raw data were analyzed with Mutect21 and Vardict2 tools. The inhouse NGSreport software (CHU Lille) was used for data visualization, sequences check and conservation of variants with high quality metrics. In some cases, patients genomic DNA was screened for sequence variations (large deletions, insertions and duplications) by Multiplex Ligation-dependent Probe Amplification (MCR Holland).
PreviouslyPublished: NA
Gene: VWF
Variant: c.1530G > A, p.(Val510 =) p.
HGVS: NM_000552.5:c.1530G>A (p.Val510=)
ClinVarID:
CAID: CA6403368
gnomAD: MAF of 0.00002198 (2/91004 alleles) in South Asian population https://gnomad.broadinstitute.org/variant/chr12-6062957-C-T?dataset=gnomad_r4
Variant: c.1892C > T, p.(Ala631Val)
HGVS: NM_000552.5:c.1892C>T (p.Ala631Val)
ClinVarID: 422844
CAID: CA6403245
gnomAD: MAF of 0.001908 (137/71810 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6056910-G-A?dataset=gnomad_r4
Variant: c.2220G > A, p.(Met740Ile)
HGVS: NM_000552.5:c.2220G>A (p.Met740Ile)
ClinVarID: 100206
CAID: CA201316
gnomAD: MAF of 0.1816 (13626/75022 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6046784-C-T?dataset=gnomad_r4
Variant: c.2451T > A, p.(His817Gln)
HGVS: NM_000552.5:c.2451T>A (p.His817Gln)
ClinVarID: 100224
CAID: CA228345
gnomAD: MAF of 0.1150 (8626/75016 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6036483-A-T?dataset=gnomad_r4
Variant: c.3445T > C, p.(Cys1149Arg)
HGVS: NM_000552.5:c.3445T>C (p.Cys1149Arg)
ClinVarID: 309
CAID: CA228410
gnomAD: MAF of 0.000003160 (1/316464 alleles) in European (non-Finnish) population https://gnomad.broadinstitute.org/variant/chr12-6022833-A-G?dataset=gnomad_r4
Variant: c.4414G > C p.(Asp1472His)
HGVS: NM_000552.5:c.4414G>C (p.Asp1472His)
ClinVarID: 256679
CAID: CA6402534
gnomAD: MAF of 0.5076 (38011/74882 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6019004-C-G?dataset=gnomad_r4
Variant: c.6554G > A, p.(Arg2185Gln)
HGVS: NM_000552.5:c.6554G>A (p.Arg2185Gln)
ClinVarID: 100443
CAID: CA228748
gnomAD: MAF of 0.1927 (14427/74878 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-5993906-C-T?dataset=gnomad_r4
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30 O
Case: Patient 30, Family O (Table 1.), M/42, Afro-Caribbean
DiseaseAssertion: VWD2A (IIE)
FamilyInfo: Patient 31 (F/73, Afro-Caribbean) also from Family O. (Table 1.)
ParentalGenotype(s): NA
CasePresentingHPOs:
CaseHPOFreeRext: BAT = 4, FVIII:C (IU/dL) = 35, VWF:Ag (IU/dL) = 10, VWF:Act (IU/dL) = 29
CaseNOTHPOs:
CaseNOTHPOFreeText: Blood group O+
CasePreviousTesting:
GenotypingMethod: All samples were analyzed by captured-based high throughput sequencing which was performed with a custom-design of the VWF gene provided by Twist BioScience (San Francisco, USA). It comprised all 52 exons, intronic flanking regions, promoter and 3’UTR region of the VWF gene. Libraries were prepared by using the Twist NGS target enrichment solution (Twist BioScience) according to the manufacturer protocol. Samples were analyzed on a NovaSeq 6000 sequencer (Illumina) with a median read depth of 2500X by using the 300-cycle S1 NovaSeq 6000seq reagent kit with 150-bp paired-end reads. The raw data were analyzed with Mutect21 and Vardict2 tools. The inhouse NGSreport software (CHU Lille) was used for data visualization, sequences check and conservation of variants with high quality metrics. In some cases, patients genomic DNA was screened for sequence variations (large deletions, insertions and duplications) by Multiplex Ligation-dependent Probe Amplification (MCR Holland).
PreviouslyPublished: NA
Gene: VWF
Variant: c.1530G > A, p.(Val510 =) p.
HGVS: NM_000552.5:c.1530G>A (p.Val510=)
ClinVarID:
CAID: CA6403368
gnomAD: MAF of 0.00002198 (2/91004 alleles) in South Asian population https://gnomad.broadinstitute.org/variant/chr12-6062957-C-T?dataset=gnomad_r4
Variant: c.1892C > T, p.(Ala631Val)
HGVS: NM_000552.5:c.1892C>T (p.Ala631Val)
ClinVarID: 422844
CAID: CA6403245
gnomAD: MAF of 0.001908 (137/71810 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6056910-G-A?dataset=gnomad_r4
Variant: c.2220G > A, p.(Met740Ile)
HGVS: NM_000552.5:c.2220G>A (p.Met740Ile)
ClinVarID: 100206
CAID: CA201316
gnomAD: MAF of 0.1816 (13626/75022 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6046784-C-T?dataset=gnomad_r4
Variant: c.2451T > A, p.(His817Gln)
HGVS: NM_000552.5:c.2451T>A (p.His817Gln)
ClinVarID: 100224
CAID: CA228345
gnomAD: MAF of 0.1150 (8626/75016 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6036483-A-T?dataset=gnomad_r4
Variant: c.3445T > C, p.(Cys1149Arg)
HGVS: NM_000552.5:c.3445T>C (p.Cys1149Arg)
ClinVarID: 309
CAID: CA228410
gnomAD: MAF of 0.000003160 (1/316464 alleles) in European (non-Finnish) population https://gnomad.broadinstitute.org/variant/chr12-6022833-A-G?dataset=gnomad_r4
Variant: c.4414G > C p.(Asp1472His)
HGVS: NM_000552.5:c.4414G>C (p.Asp1472His)
ClinVarID: 256679
CAID: CA6402534
gnomAD: MAF of 0.5076 (38011/74882 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6019004-C-G?dataset=gnomad_r4
Variant: c.6554G > A, p.(Arg2185Gln)
HGVS: NM_000552.5:c.6554G>A (p.Arg2185Gln)
ClinVarID: 100443
CAID: CA228748
gnomAD: MAF of 0.1927 (14427/74878 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-5993906-C-T?dataset=gnomad_r4
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32 K
Case: Patient 32, Family K (Table 1.), F/17, Afro-Caribbean
DiseaseAssertion: VWD2A (IIE)
FamilyInfo: Patient 18 (F/53, Afro-Carribean), Patient 29 (F/33, Afro-Caribbean), Patient 33 (F/49, Afro-Caribbean) also from Family K. (Table 1.)
ParentalGenotype(s): NA
CasePresentingHPOs:
CaseHPOFreeRext: BAT =4, FVIII:C (IU/dL) = 79, VWF:Ag (IU/dL) = 49, VWF:Act (IU/dL) = 37
CaseNOTHPOs:
CaseNOTHPOFreeText: Blood type O+
CasePreviousTesting:
GenotypingMethod: All samples were analyzed by captured-based high throughput sequencing which was performed with a custom-design of the VWF gene provided by Twist BioScience (San Francisco, USA). It comprised all 52 exons, intronic flanking regions, promoter and 3’UTR region of the VWF gene. Libraries were prepared by using the Twist NGS target enrichment solution (Twist BioScience) according to the manufacturer protocol. Samples were analyzed on a NovaSeq 6000 sequencer (Illumina) with a median read depth of 2500X by using the 300-cycle S1 NovaSeq 6000seq reagent kit with 150-bp paired-end reads. The raw data were analyzed with Mutect21 and Vardict2 tools. The inhouse NGSreport software (CHU Lille) was used for data visualization, sequences check and conservation of variants with high quality metrics. In some cases, patients genomic DNA was screened for sequence variations (large deletions, insertions and duplications) by Multiplex Ligation-dependent Probe Amplification (MCR Holland).
PreviouslyPublished: NA
Gene: VWF
Variant: c.2365A > G, p.(Thr789Ala)
HGVS: NM_000552.5:c.2365A>G (p.Thr789Ala)
ClinVarID: 256659
CAID: CA6403090
gnomAD: MAF of 0.5793 (43409/74928 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6044368-T-C?dataset=gnomad_r4
Variant: c.2385T > C, p.(Tyr795 =)
HGVS: NM_000552.5:c.2385T>C (p.Tyr795=)
ClinVarID: 256660
CAID: CA6403087
gnomAD: MAF of 0.5788 (43385/74952 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6044348-A-G?dataset=gnomad_r4
Variant: c.2880G > A, p.(Arg960 =)
HGVS: NM_000552.5:c.2880G>A (p.Arg960=)
ClinVarID: 195657
CAID: CA201877
gnomAD: MAF of 0.3169 (23737/74896 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6029429-C-T?dataset=gnomad_r4
Variant: c.3505T > A, p.(Cys1169Ser)
HGVS: NM_000552.5:c.3505T>A (p.Cys1169Ser)
ClinVarID:
CAID: CA383511219
gnomAD:
-
39 S
Case: Patient 39, Family S (Table 1.), F/76, Afro-Caribbean
DiseaseAssertion: VWD2A (IIA)
FamilyInfo: Patient 40 (F/38, Afro-Caribbean), Patient 41 (M/63, Afro-Caribbean) and Patient 52 (F/48, Afro Caribbean) also from Family S. (Table 1.)
ParentalGenotype(s): NA
CasePresentingHPOs:
CaseHPOFreeRext: BAT = 3, FVIII:C (IU/dL) = 74, VWF:Ag (IU/dL) = 35, VWF:Act (IU/dL) = 12
CaseNOTHPOs:
CaseNOTHPOFreeText: Blood group O+
CasePreviousTesting:
GenotypingMethod: All samples were analyzed by captured-based high throughput sequencing which was performed with a custom-design of the VWF gene provided by Twist BioScience (San Francisco, USA). It comprised all 52 exons, intronic flanking regions, promoter and 3’UTR region of the VWF gene. Libraries were prepared by using the Twist NGS target enrichment solution (Twist BioScience) according to the manufacturer protocol. Samples were analyzed on a NovaSeq 6000 sequencer (Illumina) with a median read depth of 2500X by using the 300-cycle S1 NovaSeq 6000seq reagent kit with 150-bp paired-end reads. The raw data were analyzed with Mutect21 and Vardict2 tools. The inhouse NGSreport software (CHU Lille) was used for data visualization, sequences check and conservation of variants with high quality metrics. In some cases, patients genomic DNA was screened for sequence variations (large deletions, insertions and duplications) by Multiplex Ligation-dependent Probe Amplification (MCR Holland).
PreviouslyPublished: NA
Gene: VWF
Variant: deletion of exons 9-10
HGVS: NM_000552.5:c.1030_1317del (p.Gly344_Arg439del)
ClinVarID:
CAID: CA3260663889
gnomAD:
Variant: c.4138A > G, p.(Ile1380Val)
HGVS: NM_000552.5:c.4138A>G (p.Ile1380Val)
ClinVarID: 310063
CAID: CA6402595
gnomAD: MAF of 0.1184 (8878/74958 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6019280-T-C?dataset=gnomad_r4
Variant: c.4304A > G, p.(Asn1435Ser)
HGVS: NM_000552.5:c.4304A>G (p.Asn1435Ser)
ClinVarID: 310062
CAID: CA6402552
gnomAD: MAF of 0.1124 (8427/74964 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6019114-T-C?dataset=gnomad_r4
Variant: c.4414G > C p.(Asp1472His)
HGVS: NM_000552.5:c.4414G>C (p.Asp1472His)
ClinVarID: 256679
CAID: CA6402534
gnomAD: MAF of 0.5076 (38011/74882 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6019004-C-G?dataset=gnomad_r4
Variant: c.4628C > G p.(Ser1543Cys)
HGVS: NM_000552.5:c.4628C>G (p.Ser1543Cys)
ClinVarID: 4533008
CAID: CA383500651
gnomAD:
-
9 F
Case: Patient 9, Family F (Table 1.), F/76, Afro-Caribbean
DiseaseAssertion: VWD2A (IIE)
FamilyInfo: Patient 8 (M/86, Afro-Caribbean) and Patient 28 (F/55, Afro-Caribbean) also from Family F. (Table 1.)
ParentalGenotype(s): NA
CasePresentingHPOs:
CaseHPOFreeRext: BAT =11, FVIII:C (IU/dL) = 40, VWF:Ag (IU/dL) = 30, VWF:Act (IU/dL) = 28
CaseNOTHPOs:
CaseNOTHPOFreeText: Blood group B-
CasePreviousTesting:
GenotypingMethod: All samples were analyzed by captured-based high throughput sequencing which was performed with a custom-design of the VWF gene provided by Twist BioScience (San Francisco, USA). It comprised all 52 exons, intronic flanking regions, promoter and 3’UTR region of the VWF gene. Libraries were prepared by using the Twist NGS target enrichment solution (Twist BioScience) according to the manufacturer protocol. Samples were analyzed on a NovaSeq 6000 sequencer (Illumina) with a median read depth of 2500X by using the 300-cycle S1 NovaSeq 6000seq reagent kit with 150-bp paired-end reads. The raw data were analyzed with Mutect21 and Vardict2 tools. The inhouse NGSreport software (CHU Lille) was used for data visualization, sequences check and conservation of variants with high quality metrics. In some cases, patients genomic DNA was screened for sequence variations (large deletions, insertions and duplications) by Multiplex Ligation-dependent Probe Amplification (MCR Holland).
PreviouslyPublished: NA
Gene: VWF
Variant: c.1530G > A, p.(Val510 =) p.
HGVS: NM_000552.5:c.1530G>A (p.Val510=)
ClinVarID:
CAID: CA6403368
gnomAD: MAF of 0.00002198 (2/91004 alleles) in South Asian population https://gnomad.broadinstitute.org/variant/chr12-6062957-C-T?dataset=gnomad_r4
Variant: c.1892C > T, p.(Ala631Val)
HGVS: NM_000552.5:c.1892C>T (p.Ala631Val)
ClinVarID: 422844
CAID: CA6403245
gnomAD: MAF of 0.001908 (137/71810 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6056910-G-A?dataset=gnomad_r4
Variant: c.2220G > A, p.(Met740Ile)
HGVS: NM_000552.5:c.2220G>A (p.Met740Ile)
ClinVarID: 100206
CAID: CA201316
gnomAD: MAF of 0.1816 (13626/75022 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6046784-C-T?dataset=gnomad_r4
Variant: c.2451T > A, p.(His817Gln)
HGVS: NM_000552.5:c.2451T>A (p.His817Gln)
ClinVarID: 100224
CAID: CA228345
gnomAD: MAF of 0.1150 (8626/75016 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6036483-A-T?dataset=gnomad_r4
Variant: c.3426T > C, p.(Cys1142 =)
HGVS: NM_000552.5:c.3426T>C (p.Cys1142=)
ClinVarID: 256668
CAID: CA6402757
gnomAD: MAF of 0.2077 (7935/38206 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6022852-A-G?dataset=gnomad_r4
Variant: c.3445T > C, p.(Cys1149Arg)
HGVS: NM_000552.5:c.3445T>C (p.Cys1149Arg)
ClinVarID: 309
CAID: CA228410
gnomAD: MAF of 0.000003160 (1/316464 alleles) in European (non-Finnish) population https://gnomad.broadinstitute.org/variant/chr12-6022833-A-G?dataset=gnomad_r4
Variant: c.3485C > T, p.(Pro1162Leu)
HGVS: NM_000552.5(VWF):c.3485C>T (p.Pro1162Leu)
ClinVarID: 256669
CAID: CA6402756
gnomAD: MAF of 0.2076 (7087/34136 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6022793-G-A?dataset=gnomad_r4
Variant: c.3486A > G, p.(Pro1162 =)
HGVS: NM_000552.5:c.3486A>G (p.Pro1162=)
ClinVarID: 256670
CAID: CA6402755
gnomAD: MAF of 0.2083 (7074/33968 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6022792-T-C?dataset=gnomad_r4
Variant: c.4414G > C p.(Asp1472His)
HGVS: NM_000552.5:c.4414G>C (p.Asp1472His)
ClinVarID: 256679
CAID: CA6402534
gnomAD: MAF of 0.5076 (38011/74882 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6019004-C-G?dataset=gnomad_r4
Variant: c.6554G > A, p.(Arg2185Gln)
HGVS: NM_000552.5:c.6554G>A (p.Arg2185Gln)
ClinVarID: 100443
CAID: CA228748
gnomAD: MAF of 0.1927 (14427/74878 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-5993906-C-T?dataset=gnomad_r4
-
45 V
Case: Patient 45, Family V (Table 1.), M/51, Afro-Caribbean
DiseaseAssertion: VWD2M
FamilyInfo: NA
ParentalGenotype(s): NA
CasePresentingHPOs:
CaseHPOFreeRext: BAT = 5, FVIII:C (IU/dL) = 45, VWF:Ag (IU/dL) = 96, VWF:Act (IU/dL) = 59
CaseNOTHPOs:
CaseNOTHPOFreeText: Blood group O+
CasePreviousTesting:
GenotypingMethod: All samples were analyzed by captured-based high throughput sequencing which was performed with a custom-design of the VWF gene provided by Twist BioScience (San Francisco, USA). It comprised all 52 exons, intronic flanking regions, promoter and 3’UTR region of the VWF gene. Libraries were prepared by using the Twist NGS target enrichment solution (Twist BioScience) according to the manufacturer protocol. Samples were analyzed on a NovaSeq 6000 sequencer (Illumina) with a median read depth of 2500X by using the 300-cycle S1 NovaSeq 6000seq reagent kit with 150-bp paired-end reads. The raw data were analyzed with Mutect21 and Vardict2 tools. The inhouse NGSreport software (CHU Lille) was used for data visualization, sequences check and conservation of variants with high quality metrics. In some cases, patients genomic DNA was screened for sequence variations (large deletions, insertions and duplications) by Multiplex Ligation-dependent Probe Amplification (MCR Holland).
PreviouslyPublished: NA
Gene: VWF
Variant: c.4196G > A, p.(Arg1399His)
HGVS: NM_000552.5:c.4196G>A (p.Arg1399His)
ClinVarID: 293
CAID: CA114133
gnomAD: MAF of 0.01540 (456/29604 alleles) in Ashkenazi Jewish population https://gnomad.broadinstitute.org/variant/chr12-6019222-C-T?dataset=gnomad_r4
Variant: c.4414G > C p.(Asp1472His)
HGVS: NM_000552.5:c.4414G>C (p.Asp1472His)
ClinVarID: 256679
CAID: CA6402534
gnomAD: MAF of 0.5076 (38011/74882 alleles) in African/African American population https://gnomad.broadinstitute.org/variant/chr12-6019004-C-G?dataset=gnomad_r4
Tags
- Zygosity:Homozygous
- AlleleOrigin:Germline
- ClinVarID:309
- ClinVarID:100206
- CAID:CA6402595
- ClinVarID:256669
- CAID:CA3260663889
- CAID:CA6403090
- CAID:CA201316
- ClinVarID:310062
- DiseaseEntity:VWD2M
- ClinVarID:310063
- Individual
- ClinVarID:256679
- CAID:CA383500651
- ClinVarID:256659
- FamilyInfo
- CAID:CA6402756
- CaseInfo
- ClinVarID:100224
- CAID:CA6402755
- CAID:CA6403087
- ClinVarID:100443
- CAID:CA6403245
- CAID:CA6402757
- CAID:CA228748
- CAID:CA6402552
- CAID:CA6402534
- ClinGen VWF
- CAID:CA228410
- ClinVarID:293
- CAID:CA201877
- ClinVarID:422844
- CAID:CA228345
- DiseaseEntity:VWD2A
- ClinVarID:256668
- ClinVarID:256670
- ClinVarID:256660
- CAID:CA114133
- ClinVarID:195657
- CAID:CA6403368
- inferred_gene_hgnc:12726
- inferred_gene_source:CAID
- CAID:CA383511219
- ClinVarID:4533008
- Zygosity:CompoundHeterozygous
- Gene:VWF
Annotators
URL
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Identification of type 2 von Willebrand disease in previously diagnosed type 1 patients: a reappraisal using phenotypes, genotypes and molecular modelling
PMID: 11154147
Notes: Tyr1321Asp reported as Tyr558Asp and c.4211T>G
CAID: CA383506021
-
-
www.sciencedirect.com www.sciencedirect.com
-
27*IndiaF/12<1—NoMild191delGFS3HomozygousAlwNI (+)
Case: 27, F, 12, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: No
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (U/dl): <1, Bleeding symptoms: Mild
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
191delG (FS), Exon 3, Homozygous
Note: It is possible that the homozygous zygosity was detected from a PCR artifact (e.g. presence of a large gene deletion or point mutation that prevents amplification); different sets of primers were used, providing conformation and excluding the possibility for a PCR artifact due to point mutation.
-
3*ItalyF/21<1—NoSevere666G→A/823T→AW222X/C275S7/7HeterozygousN.A./BsrI (+)
Case: 3, F, 21, Italian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (U/dl): <1, Bleeding symptoms: Severe
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
666G→A (Trp222X), Exon 7
823T→A (Cys275Ser), Exon 7
Compound Heterozygous
-
2ItalyF/58<1—NoSevere421G→T/2016del4D141Y/FS5/16HeterozygousBstYI (+)/N.A.
Case: 2, F, 58, Italian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (U/dl): <1, Bleeding symptoms: Severe
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
421G→T (Asp141Tyr), Exon 5
2016del4 (FS), Exon 16
Compound Heterozygous
-
8*ItalyF/7<1—NoMild4013C→G/6385G→TS1338X/E2129X28/37HeterozygousN.A./MnlI (−)
Case: 8, F, 7, Italian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (U/dl): <1, Bleeding symptoms: Mild
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
4013C→G (Ser1338X), Exon 28
6385G→T (Glu2129X), Exon 37
Compound Heterozygous
-
4ItalyM/55<1—NoSevere1093C→T/1830C→AR365X/Y610X9/15HeterozygousTaqI (−)/DdeI (+)
Case: 4 , M, 55, Italian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (U/dl): <1, Bleeding symptoms: Severe
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
1093C→T (Arg365X), Exon 9
1830C→A (Tyr610X), Exon 15
Compound Heterozygous
-
30*IndiaF/321—NoMild6977-1G→CFS41HomozygousDraIII (+)
Case: 30, F, 32, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: No
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (U/dl): 1, Bleeding symptoms: Mild
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
6977-1G→C (intronic), Exon 41, Homozygous
Note: The article assumes 6977-1G→C would be a frameshift mutation. It is possible that the homozygous zygosity was detected from a PCR artifact (e.g. presence of a large gene deletion or point mutation that prevents amplification); different sets of primers were used, providing conformation and excluding the possibility for a PCR artifact due to point mutation. No potential splice site mutation was confirmed at the mRNA level; “Splice Site Prediction program” found all mutations likely to disrupt normal splicing. No possible splice site mutation could be identified on 100 chromosomes from a group of 50 normal subjects with same genetic background as patients, excluding the possibility that these mutations represent common polymorphisms
-
18*IranM/212—YesSevere1930G→TE644X15HomozygousHaeII (+)
Case: 18, M, 21, Iranian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: Yes
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (U/dl): 2, Bleeding symptoms: Severe
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
1930G→T (Glu644X), Exon 15, Homozygous
-
37IndiaF/29<1—NoMild1896G→A/3212G→TW642X/C1071F15/24HeterozygousMaeIII (+)/N.A.
Case: 37, F, 29, Indian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: No
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (U/dl): <1, Bleeding symptoms: Mild
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
1896G→A (Trp642X), Exon 15
3212G→T (Cys1071Phe), Exon 24
Compound Heterozygous
Tags
- Zygosity:Homozygous
- CAID:CA228289
- CAID:CA228302
- CAID:CA228834
- Mutation:Missense
- CAID:CA228559
- DiseaseEntity:VWD3
- Mutation:Nonsense
- ClinGen VWF
- CAID:CA228512
- CAID:PA228301
- CAID:CA228768
- PreviouslyPublished
- CAID:CA228753
- Mutation:Intronic
- CAID:CA228738
- inferred_gene_hgnc:12726
- inferred_gene_source:CAID
- CAID:CA228297
- CAID:CA228257
- CAID:CA228382
- CAID:CA228305
- Mutation:Frameshift
- Zygosity:CompoundHeterozygous
Annotators
URL
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
A 30-year-old male patient
Case: Patient from family B, a 30-year-old male consanguineous Chinese patient
DiseaseAssertion: Type 3 von Willebrand disease
FamilyInfo: Patient's parents were cousins, both heterozygous carriers, who had also had a son and two daughters, of which one daughter died at 1 year old due to unspecified bleeding disorder
ParentalGenotype(s): Heterozygous carriers, no details given as far as specific genotypes
CasePresentingHPOs:
CaseHPOFreeRext: "hematoma in the lower extremity," "The VWF:Ag, VWF:RCo, and FVIII:C were decreased to be 0.5%, 0.1%, and 1.2%, respectively," and APTT was prolonged (PT: 13.6 s, APTT: 72.0 s, TT: 14.9 s)
CaseNOTHPOs: N/A
CaseNOTHPOFreeText: PT and TT were within normal range
CasePreviousTesting: N/A
GenotypingMethod: NGS was performed targeting all exons and intronic flanking regions of the F8 (OMIM: * 300841, NM_000132.3), F9 (OMIM: * 300746, NM_000133.3), and VWF (OMIM: * 613160, NM_000552.4) genes; Some exons of VWF gene could not be discriminated from its highly homologous pseudogene, and these exons were sequenced by Sanger sequencing
Gene: VWF
Variant: Homozygous VWF c.6450C>A (p.Cys2150Ter) nonsense mutation
HGVS: NM_000552.5:c.6450C>A
ClinVarID: NR
CAID: CA383491381
gnomAD: NR
-
Two cases of von Willebrand disease type 3 in consanguineousChinese families
PMID: 31793247
Gene: VMF
HGNCID: HGNC:12726
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Two vitellogenins in the loliginid squid Uroteuthis edulis: Identification and specific expression in ovarian follicles
PMID: 28218427
Gene: VWF
HGNCID: 12726
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Type 2M Von Willebrand Disease: A Case Report
Case: 24-year-old Caucasian woman with a rare variety of type 2M VWD
DiseaseAssertion: 2M VWD
FamilyInfo: family history was negative for easy bruisability, bleeding, or clotting disorder but maternal grandmother had lung cancer.
CaseNOTHPOFreeText: Von Willebrand factor antigen 45% on 9/12/17 and 37% on 9/19/17 with the ratio of VWF activity to the antigen is less than 0.7
ParentalGenotype(s):Unknown
CasePresentingHPOs: HP:0003010 (Prolonged bleeding time), HP:0000978 (Bruising susceptibility).
**CaseHPOFreeText: ** loss of weight over the last six months, The complete blood count, comprehensive metabolic panel, factor VIII, prothrombin time and partial thromboplastin time, D-Dimer, and antithrombin activity were normal. Her von Willebrand factor activity was much lower compared to the antigen.
CasePreviousTesting: None
GenotypingMethod: Patient have not been genotyped
PreviouslyPublished: N/A
Variant: N/A
ClinVarID: N/A
gnomAD: N/A
**Gene: ** VWF Inheritance mode autosomal dominant variety with normal, high molecular weight multimers
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
VWD1-115.619.50.807214.0NormalExon 13c.1496A>C‡p.Gln499ProD2Missense
Case: Croatian adult patient
DiseaseAssertion: VWD1
FamilyInfo: Not specified
ParentalGenotype(s): Not specified
CasePresentingHPOs: HP:0001892, HP:0011890, HP:0000132, HP:0002239, HP:0000790, HP:0001342
CaseHPOFreeText: Reduced VWF:Ag of 19.5%, and VWF:GPIbM of 15.6% and VWF:CBA of 14%. Normal FVIII:C of 72%. Normal multimer distribution.
CaseNOTHPOs: Not specified
CaseNOTHPOFreeText: Normal multimer size distribution (tested in Agarose gel).
CasePreviousTesting: Not reported
GenotypingMethod: Illumina NGS, custom designed panel covering all 52 exons as well as intronic flanking regions and promoter region of VWF gene.
PreviouslyPublished: None
Gene: VWF
Variant: c.1496A>C
HGVS: NM_000552.4:c.1496A>C (p.Gln499Pro)
ClinVarID: Not available
CAID: CA383500550
gnomAD: Not available
-
VWD3-4‡8.3<4.05<1.0436c.319C>T§c.6151A>T§p.Gln107Terp.Arg2051TerD1D4Stop gainedStop gainedHeterozygousHeterozygous
Case: Croatian adult patient
DiseaseAssertion: VWD3
FamilyInfo: No variant detected in a family member with VWD3.
ParentalGenotype(s): Not specified
CasePresentingHPOs: HP:0001892, HP:0011890, HP:0000132, HP:0002239, HP:0000790, HP:0001342
CaseHPOFreeText: Reduced VWF:Ag of <4.0%, VWF:GPIbM of 8.3%, FVIII:C of 5% and VWF:CBA below 1%.
CaseNOTHPOs: Not specified
CaseNOTHPOFreeText: Not specified.
CasePreviousTesting: Not reported
GenotypingMethod: Illumina NGS, custom designed panel covering all 52 exons as well as intronic flanking regions and promoter region of VWF gene.
PreviouslyPublished: None
Gene: VWF
Variant: c.6151A>T
HGVS: NM_000552.4:c.6151A>T (c.6151A>T)
ClinVarID: Not available
CAID: CA383492290
gnomAD: Not available
-
VWD1-341.367.80.617250.5NormalExon 17c.2269_2270delCT‡p.Leu757ValfsTer22D2Frameshift indels
Case: Croatian adult patient
DiseaseAssertion: VWD1
FamilyInfo: Not specified
ParentalGenotype(s): Not specified
CasePresentingHPOs: HP:0001892, HP:0011890, HP:0000132, HP:0002239, HP:0000790, HP:0001342
CaseHPOFreeText: Reduced VWF:GPIbM of 41.3%. Normal VWF:Ag of 67.8%, FVIII:C of 72% and VWF:CBA of 50.5%. Normal multimer distribution.
CaseNOTHPOs: Not specified
CaseNOTHPOFreeText: Normal multimer size distribution (tested in Agarose gel).
CasePreviousTesting: Not reported
GenotypingMethod: Illumina NGS, custom designed panel covering all 52 exons as well as intronic flanking regions and promoter region of VWF gene.
PreviouslyPublished: PMID: 34351388
Gene: VWF
Variant: c.2269_2270delCT
HGVS: NM_000552.4:c.2269_2270delCT (p.Leu757ValfsTer22)
ClinVarID: 100207
CAID: CA228313
**gnomAD: ** 0.000008794 in European (non-Finnish), 0.0003115 in XX and 0.0001629 in XY
https://gnomad.broadinstitute.org/variant/12-6155899-CAG-C?dataset=gnomad_r2_1
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Limitations of the Ristocetin Cofactor Assay in Measurement of VWF Function
PMID: 19694940
Gene: VWF
HGNC: 12726
-
-
web-s-ebscohost-com.libproxy.lib.unc.edu web-s-ebscohost-com.libproxy.lib.unc.edu
-
Case#: Elayaperumal_2018_V-283, M, 3 y.o. (onset), origin in India
DiseaseAssertion: VWD type 3
FamilyInfo: no consanguinity, no family history
ParentalGenotype: not reported
CasePresentingHPOs:
CaseHPOFreeText: bleeding score of 12, VWF:Ag of 0, FVIII:C 4.3%
CaseNotHPOs:
CaseNotHPOFreeText:
CasePreviousTesting: not reported
GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.
Gene: VWF
Variant: homozygous c.6321G>A (p.Trp2107*)
HGVS: NM_000552.3:c.6321G>A
ClinVarID: not reported
CAID: CA383491677
gnomAD: not reported
MultipleGeneVariants: not reported
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
Supplementary Material
Case: Row 11 in Supplemental Table 1. Data represents 2 patients from 2 families.
DiseaseAssertion: type 1 VWD
FamilyInfo:
ParentalGenotype(s):
CasePresentingHPOs:
CaseHPOFreeRext: FVIII:C/VWF:Ag = 1.0; VWFpp/VWF:Ag = 2.0
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting:
GenotypingMethod: Genetic analysis was performed at the laboratory of hematology of the Radboud University Medical Center in Nijmegen. Ion semiconductor sequencing (Ion-Torrent) was used to analyze the VWF gene from peripheral blood obtained in EDTA tubes or from saliva samples. The 52 exons of VWF gene were analyzed including ±20 bp exon-intron boundaries. If no VWF gene variant was detected, multiplex ligation-dependent probe amplification (MLPA) analysis was performed to find large deletions or duplications. Thus, MLPA was performed in 183 patients (46.9%). All variants were confirmed with Sanger sequencing.
PreviouslyPublished:
Gene: VWF
Variant: 1625C>G A542G
HGVS: VWF:c.1625C>G (p.Ala542Gly)
ClinVarID: 381621
CAID:
gnomAD: 0.001062 (1714 in 1613708) 2 homozygotes https://gnomad.broadinstitute.org/variant/12-6057953-G-C?dataset=gnomad_r4
MultipleGeneVariants:
Gene: VWF
Variant: c.8366C>T p.Thr2789Ile (only present in 1 of the 2 patients)
CAID: CA6401321
gnomAD: absent
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
1
Case#: 1, female, 44yo
DiseaseAssertion: VWD1
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: HP:0007420, HP:0000132, HP:0004846, HP:0012147, HP:0030129, HP:0030130 (spontaneous hematomas, Menorrhagia, Reduced quantity of VWF, Impaired ristocetin cofactor assay activity, Impaired von Willebrand factor collagen binding activity)
CaseHPOFreeText: Type O blood, VWF:Ag (0·55–2 iu/ml) pre = 0·47, VWF:RCo (0·55–2 iu/ml) pre = 0·5, FVIII:C (0·55–2 iu/ml) pre = 0·16, FVIII:C/VWF:Ag ratio = 0·32, VWF:FVIII binding (>20%) = 7%, VWF:FVIII binding/VWF:Ag (>0·7) = 0·15, patient died after motor vehicle accident
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
ProteinExpression: N/A
CasePreviousTesting: RFLP; confirmatory sequencing
Gene: VWF
Variant 1: NM_000552.4(VWF):c.2561G>A (p.Arg854Gln)
ClinVar: 296; https://www.ncbi.nlm.nih.gov/clinvar/variation/296/
gnomAD: MAF = 0.005692 (European Non-Finnish); https://gnomad.broadinstitute.org/variant/12-6143978-C-T
Variant 2: N/A - stated to be a compound heterozygote for a 2N VWD and a presumed null mutation
-
3
Case#: 3, female, 19yo
DiseaseAssertion: VWD1
FamilyInfo: brother diagnosed with VWD
ParentalGenotype: N/A
CasePresentingHPOs: HP:0000978; HP:0000132, HP:0004846, HP:0012147, HP:0030129 (Bruising susceptibility, Menorrhagia, Reduced quantity of VWF, Impaired ristocetin cofactor assay activity)
CaseHPOFreeText: Type O blood, VWF:Ag (0·55–2 iu/ml) pre = 0·14, VWF:RCo (0·55–2 iu/ml) pre = 0·15, FVIII:C (0·55–2 iu/ml) pre = 0·1, FVIII:C/VWF:Ag ratio = 0·71, VWF:FVIII binding (>20%) = n/a, VWF:FVIII binding/VWF:Ag (>0·7) = n/a, spinal surgery with VWF concentrate and adequate haemostasis
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
ProteinExpression: N/A
CasePreviousTesting: RFLP; confirmatory sequencing
Gene: VWF
Variant 1: NM_000552.4(VWF):c.2561G>A (p.Arg854Gln)
ClinVar: 296; https://www.ncbi.nlm.nih.gov/clinvar/variation/296/
gnomAD: MAF = 0.005692 (European Non-Finnish); https://gnomad.broadinstitute.org/variant/12-6143978-C-T
Variant 2: N/A - stated to be a compound heterozygote for a 2N VWD and a presumed null mutation
-
4
Case#: 4, male, 23yo
DiseaseAssertion: VWD1
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: HP:0004846, HP:0012147, HP:0030129 (Reduced quantity of VWF, Impaired ristocetin cofactor assay activity)
CaseHPOFreeText: Haemarthrosis in teens, Delayed bleeding after tonsillectomy (DDAVP given prior to procedure), VWF:Ag (0·55–2 iu/ml) pre = 0·35, VWF:RCo (0·55–2 iu/ml) pre = 0·32, FVIII:C (0·55–2 iu/ml) pre = 0·12, FVIII:C/VWF:Ag ratio = 0·34, VWF:FVIII binding (>20%) = n/a, VWF:FVIII binding/VWF:Ag (>0·7) = n/a, Surgery to repair a syringomyelia defect with VWF concentrate and no bleeding complications
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
ProteinExpression: N/A
CasePreviousTesting: RFLP; confirmatory sequencing
Gene: VWF
Variant 1: NM_000552.4(VWF):c.2561G>A (p.Arg854Gln)
ClinVar: 296; https://www.ncbi.nlm.nih.gov/clinvar/variation/296/
gnomAD: MAF = 0.005692 (European Non-Finnish); https://gnomad.broadinstitute.org/variant/12-6143978-C-T
Variant 2: N/A - stated to be a compound heterozygote for a 2N VWD and a presumed null mutation
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Current and Emerging Options for the Management of Inherited von Willebrand Disease
PMID: 28791655
Gene: VWF
HGNCID: 12726
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Controversies in the diagnosis of Type 1 von Willebrand disease
PMID: 28447419
Gene: VWF
HGNCID: 12726
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
9 F/21 <1 3 No 26 c.1–30071_220+3445del/c.3940delGa p.M1_G74delX8/p.V1314SfsX33a 1–3/28 Heterozygous
Case: 9, F, 21, Italian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (IU/dL): <1, FVIII:C (IU/dL): 3, Bleeding Score: 26
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.1–30071_220+3445del (p.Met1_Gly74delX8), Exon 1-3
c.3940delG (p.Val1314SerfsX33), Exon 28
Compound Heterozygous
-
2 M/40 <1 6 Yes 21 c.8155+1G>Ta p.G2706_C2719delfsX25a (50) Homozygous
Case: 2, M, 40, Italian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: yes
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (IU/dL): <1, FVIII:C (IU/dL): 6, Bleeding Score: 21
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.8155+1G>T (p.Gly2706_Cys2719delfsX25), Intron 50, Homozygous
Note: patient also has heterozygous insertion of five intronic nucleotides (GTAAG) between exons 45 and 46; c.8155+1G>T resulted in altering the normal mRNA splicing process
-
4 M/5 <1 17 NR 6 c.2269delCT p.L757VfsX22 17 Homozygous
Case: 4, M, 5, Italian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: not reported
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (IU/dL): <1, FVIII:C (IU/dL): 17, Bleeding Score: 6
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.2269delCT (p.Leu757ValfsX22), Exon 17, Homozygous
Note: paretns investigated for the probands defects and confirmed to carry the expected mutation at the heterozygous state
-
6 M/28 <1 9 No 15 c.2157delA/c.7729+7C>T p.D720TfsX21/p.E2577GfsX21 16/(45) Heterozygous
Case: 6, M, 28, Italian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: no
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (IU/dL): <1, FVIII:C (IU/dL): 9, Bleeding Score: 15
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.2157delA (p.Asp20ThrfsX21), Exon 16
c.7729+7C>T (p.Glu2577GlyfsX21), Intron 45
Compound Heterozygous
Note: patient also has homozygous deletion of 40 bp (NP_000543.2, where 1 is adenine in ATG initiation codon) due to the skipping of exon 50; c.7729+7C>T resulted in altering the normal mRNA splicing process
-
3 F/5 <1 4 Yes 9 c.658–2A>Ga p.G220_S292delfsX27a (6) Homozygous
Case: 3, F, 5, Italian
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: yes
ParentalGenotype: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: VWF:Ag (IU/dL): <1, FVIII:C (IU/dL): 4, Bleeding Score: 9
CaseNotHPOs: n/a
CaseNotHPOFreeText: Anti-VWF alloantibodies: no
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.658–2A>G (p.Gly220_Ser292delfsX27), Intron 6, Homozygous
Note: patient also has homozygous deletion of 217 bp (NP_000543.2, where 1 is adenine in ATG initiation codon) due to the skipping of exon 7; c.658–2A>G resulted in altering the normal mRNA splicing process
Tags
- Zygosity:Homozygous
- CAID:CA383509559
- DiseaseEntity:VWD3
- CAID:CA2499221796
- CAID:CA228313
- ClinGen VWF
- Mutation:Inframe
- CAID:CA383487227
- Mutation:c.1–30071_220+3445del
- Mutation:Intronic
- CAID:CA228815
- inferred_gene_hgnc:12726
- inferred_gene_source:CAID
- Mutation:Frameshift
- Zygosity:CompoundHeterozygous
- CAID:CA228312
Annotators
URL
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
1
Case: 2M-2
DiseaseAssertion: VWD2M
FamilyInfo:
ParentalGenotype(s):
CasePresentingHPOs: AcuStar RCo/Ag = 0.01; AcuStar CB/Ag = 1.16; ELISA CB/Ag = 1.41
CaseHPOFreeText:
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting:
GenotypingMethod: not described
PreviouslyPublished: 1409710
Gene: VWF
Variant: c.3970G>A (p.Gly1324Ser)
HGVS: NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser)
ClinVarID: 300; https://www.ncbi.nlm.nih.gov/clinvar/variation/300/?new_evidence=false
CAID:
gnomAD: MAF = 0.00003267 in South Asian population; https://gnomad.broadinstitute.org/variant/12-6128614-C-T
-
0.36
Case: 2A-5
DiseaseAssertion: VWD2A
FamilyInfo:
ParentalGenotype(s):
CasePresentingHPOs: AcuStar RCo/Ag = 0.36; AcuStar CB/Ag = 0.15; ELISA CB/Ag = 0.24
CaseHPOFreeText:
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting:
GenotypingMethod: not described
PreviouslyPublished: PMID: 1537829
Gene: VWF
Variant: c.4789C>T (p.Arg1597Trp)
HGVS: NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp)
ClinVarID: 285; https://www.ncbi.nlm.nih.gov/clinvar/variation/285/?new_evidence=false
CAID:
gnomAD: absent
-
1
Case: 2B-8
DiseaseAssertion: VWD2B
FamilyInfo:
ParentalGenotype(s):
CasePresentingHPOs: AcuStar RCo/Ag = 0.99; AcuStar CB/Ag = 1.35; ELISA CB/Ag = 1.02
CaseHPOFreeText:
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting:
GenotypingMethod: not described
PreviouslyPublished: 16985174
Gene: VWF
Variant: c.3797C>T (p.Pro1266Leu)
HGVS: NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
ClinVarID: 314; https://www.ncbi.nlm.nih.gov/clinvar/variation/314/?new_evidence=false
CAID:
gnomAD: MAF (European, Finnish) = 0.003667; 1 homozygote; https://gnomad.broadinstitute.org/variant/12-6128787-G-A
-
1
Case: 2A-7
DiseaseAssertion: VWD2A
FamilyInfo:
ParentalGenotype(s):
CasePresentingHPOs: AcuStar RCo/Ag = 0.27; AcuStar CB/Ag = 0.10; ELISA CB/Ag = 0.39
CaseHPOFreeText:
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting:
GenotypingMethod: not described
PreviouslyPublished: PMID:1673047
Gene: VWF
Variant: c.4883T>C (p.Ile1628Thr)
HGVS: NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr)
ClinVarID: 284; https://www.ncbi.nlm.nih.gov/clinvar/variation/284/?new_evidence=false
CAID:
gnomAD: absent
-
0.49
Case: 2A-1
DiseaseAssertion: VWD2A
FamilyInfo:
ParentalGenotype(s):
CasePresentingHPOs: AcuStar RCo/Ag = 0.49; AcuStar CB/Ag = 0.29; ELISA CB/Ag = 0.33
CaseHPOFreeText:
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting:
GenotypingMethod: not described
PreviouslyPublished: PMID: 8435341
Gene: VWF
Variant: c.4541T>G (p.Phe1514Cys)
HGVS: NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys)
ClinVarID: 304; https://www.ncbi.nlm.nih.gov/clinvar/variation/304/?new_evidence=false
CAID:
gnomAD: absent
Tags
- ClinVarID:285
- ClinVarID:304
- DiseaseEntity:VWD2B
- Mutation:Missense
- inferred_gene_source:Gene_Name
- DiseaseEntity:VWD2M
- ClinGen VWF
- Zygosity:NoZygosityAssertion
- ClinVarID:284
- PreviouslyPublished
- Individual
- DiseaseEntity:VWD2A
- InheritancePattern:NoInheritanceAssertion
- ClinVarID:300
- CaseInfo
- inferred_gene_hgnc:12726
- ClinVarID:314
- Gene:VWF
Annotators
URL
-
-
web-p-ebscohost-com.libproxy.lib.unc.edu web-p-ebscohost-com.libproxy.lib.unc.edu
-
V‐144
Case#: Elayaperumal_2018_V-144, M, 1 y.o. (onset), origin in India
DiseaseAssertion: VWD type 3
FamilyInfo: consanguinity, family history of bleeding
ParentalGenotype: not reported
CasePresentingHPOs:
CaseHPOFreeText: bleeding score of 7, VWF:Ag of 0, FVIII:C of 5.9%
CaseNotHPOs:
CaseNotHPOFreeText:
CasePreviousTesting: not reported
GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.
Gene: VWF
Variant: homozygous c.1117C>T (p.Arg373*)
HGVS: NM_000552.3:c.1117C>T
ClinVarID: 100175
CAID: CA228261
gnomAD: MAF of 0.0001309 (4/30550 alleles, South Asian population) https://gnomad.broadinstitute.org/variant/12-6180502-G-A
MultipleGeneVariants:
Note: previously reported in LOVD
-
V‐115
Case#: Elayaperumal_2018_V-115, female, 1 year old (onset), origin in India
DiseaseAssertion: VWD type 3
FamilyInfo: consanguinity
ParentalGenotype: not reported. family history of bleeding.
CasePresentingHPOs:
CaseHPOFreeText: bleeding score of 13. VWF:Ag of 0. FVIII:C of 1.9%
CaseNotHPOs:
CaseNotHPOFreeText:
CasePreviousTesting: not reported
GenotypingMethod: CSGE and Sanger sequencing of VWF only.
Gene: VWF
Variant: homozygous c.6321G>A (p.Trp2107*)
HGVS: NM_000552.3:c.6321G>A (p.Trp2107*)
ClinVarID: not found
CAID: CA383491677
gnomAD: not found
MultipleGeneVariants: not reported
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Abnormal angiogenesis in blood outgrowth endothelial cells derived from von Willebrand disease patients
PMID: 28362648
Gene: VWF
HGNCID: 12726
-
T3-2
Case: T3-2, female, 11yo
DiseaseAssertion: VWD3
FamilyInfo:
ParentalGenotype(s):
CasePresentingHPOs:
CaseHPOFreeText: Blood type: O+, bleeding score = 13, VWF:Ag (IU/mL) = 0.01; VWF:RCo (IU/mL) = 0.03; FVIII:C (IU/mL) = 0.01
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting:
GenotypingMethod: qRT-PCR
PreviouslyPublished:
Gene: VWF
Variant: c.1897T>C (p.Cys633Arg)
HGVS: NM_000552.5:c.1897T>C (p.Cys633Arg)
ClinVarID: n/a
CAID: CA383496953; https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383496953
gnomAD: absent
-
2B
Case: 2B, male, 55yo
DiseaseAssertion: VWD2B
FamilyInfo:
ParentalGenotype(s):
CasePresentingHPOs:
CaseHPOFreeText: Blood type: O+, bleeding score = 17, VWF:Ag (IU/mL) = 0.40; VWF:RCo (IU/mL) = 0.13; FVIII:C (IU/mL) = 0.46
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting:
GenotypingMethod: qRT-PCR
PreviouslyPublished:
Gene: VWF
Variant: c.3946G>A (p.Val1316Met)
HGVS: NM_000552.5(VWF):c.3946G>A (p.Val1316Met)
ClinVarID: 290; https://www.ncbi.nlm.nih.gov/clinvar/variation/290/?new_evidence=false
CAID:
gnomAD: absent
-
2M
Case: 2M, female, 25yo
DiseaseAssertion: VWD2M
FamilyInfo:
ParentalGenotype(s):
CasePresentingHPOs:
CaseHPOFreeText: Blood type: A+, bleeding score = 7, VWF:Ag (IU/mL) = 0.11; VWF:RCo (IU/mL) = 0.03; FVIII:C (IU/mL) = 0.39
CaseNOTHPOs:
CaseNOTHPOFreeText:
CasePreviousTesting:
GenotypingMethod: qRT-PCR
PreviouslyPublished:
Gene: VWF
Variant: c.4145T>C (p.Leu1382Pro)
HGVS: NM_000552.5:c.4145T>C (p.Leu1382Pro)
ClinVarID: n/a
CAID: CA383504407; https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383504407
gnomAD: absent
Tags
- Zygosity:Homozygous
- DiseaseEntity:VWD2B
- Mutation:Missense
- DiseaseEntity:VWD3
- inferred_gene_source:Gene_Name
- DiseaseEntity:VWD2M
- ClinGen VWF
- Zygosity:NoAssertion
- CAID:CA383504407
- inferred_gene_hgnc:12726
- CaseInfo
- inferred_gene_source:CAID
- CAID:CA383496953
- General
- ClinGen
- ClinVarID:290
- inferred_gene_source:HGNC_body
- Gene:VWF
Annotators
URL
-
-
oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu
-
Type 2B von Willebrand Disease: An Unusual Cause of Severe Neonatal Thrombocytopenia
PMID: 28060120
Gene: VWF
HGNCID: 12726
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-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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A novel mutation Gly 1672-->Arg in type 2A and a homozygous mutation in type 2B von Willebrand disease
PMID: 8865541
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2B
MONDO: 0015629
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
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-
oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu
-
a 5-year-old boy was diagnosed with mild hemophilia A
Case#: Male, 31<br /> DiseaseAssertion: VWD 2N<br /> FamilyInfo: A younger brother with mild HA, sister with normal VWF levels, no other famile members with bleeding disorders<br /> ParentalGenotype: <br /> CasePresentingHPOs: HP:0000421 (epistaxis), HP:0007420 (spontaneous hematoma)<br /> CaseHPOFreeText: Soft tissue bleeding, VWF:Ag 80%, VWF:RCo 60%, normal VWF multimer pattern<br /> CaseNotHPOs:<br /> CaseNotHPOFreeText: <br /> CasePreviousTesting: Genotyping using Next Gen screening, by Sanger sequence screening of all 26 exons of F8 gene, by a multiplex ligation-dependent probe affinity assay, and by a VWF:FVIII binding assay<br /> Gene: VWF<br /> Variant: c2390T>G in exon 18<br /> ClinVar:<br /> CAID: gnomAD:
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
1 CASE PRESENTATION
Case#: 32 year old female
DiseaseAssertion: VWD Type 2M
CaseHPOFreeText4: Testing was repeated multiple times, with initial results being untrustworthy. Follow up testing is as follows: VWF:RCo/VWF:Ag ratio = 0.61, VWF:CB = 10. Normal multimers
CasePreviousTesting: Molecular analysis by next generation gene sequencing analysis of VWF, F8, GPIBA and GPIBB.
Gene: VWF
Variant: variant in VWF at exon 31 (c.5347 T > G) that leads to a VWF protein change of p.Ser1783Ala
HGVS: NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala)
ClinVar: 31012
CAID: CA228715
gnomAD: 0.0006918 in South Asian pop
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ashpublications.org ashpublications.org
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273568T>CC1190R0.410.240.590.140.340.568——1130
Variant: CA228423
Notes: likely type 2A variant in het, with patient and recombinant multimers. However, they show supranormal multimers and an asserted loss of triplet structure
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Protein S gene mutation c.946C > T (p.R316C) contributed to ischemic stroke in a man with von Willebrand disease type 3 caused by two novel VWF gene mutations, c.2328delT (p.A778Lfs* 23) and c.6521G > T (p.C2174F)
PMID: 36034607
Gene: VWF
HGNCID: 12726
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-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Case#: Elayaperumal_2018_V-319, F, 8 y.o. (onset), origin in India
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: No, Family history: Yes
ParentalGenotype: not reported
CasePresentingHPOs:
CaseHPOFreeText: Bleeding score: 14, VWF:Ag 0, FVIII:C <1%
CaseNotHPOs:
CaseNotHPOFreeText:
CasePreviousTesting: not reported
GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.
Gene: VWF
Variant: homozygous c.6090dupT (p.Val2031Lysfs*19)
HGVS: NM_000552.3:c.6090dupT
ClinVarID: not present
CAID: CA2824998272
gnomAD: not present
MultipleGeneVariants:
-
Case#: Elayaperumal_2018_V-260 , M, 3y.o. (onset), origin in India
DiseaseAssertion: VWD type 3
FamilyInfo: consanguinity reported. No family history of bleeding
ParentalGenotype: not reported
CasePresentingHPOs:
CaseHPOFreeText: bleeding score of 9, VWF:Ag of 0, FVIII:C of 7.4%
CaseNotHPOs:
CaseNotHPOFreeText:
CasePreviousTesting: not reported
GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.
Gene: VWF
Variant: homozygous c.665G>A (p.Trp222*)
HGVS: NM_000552.3:c.665G>A
ClinVarID: not found
CAID: CA383509511
gnomAD: not found
MultipleGeneVariants: n/a
-
Case#: Elayaperumal_2018_V-312 , M, 2.5 y.o. (onset), origin in India
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: Yes, Family history: No
ParentalGenotype: not reported
CasePresentingHPOs:
CaseHPOFreeText: Bleeding score: 7, VWF:Ag 0, FVIII:C 3.6%
CaseNotHPOs:
CaseNotHPOFreeText:
CasePreviousTesting: not reported
GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.
Gene: VWF
Variant: homozygous c.3560delT
HGVS: NM_000552.3:c.3560delT (p.Leu1187Cysfs*28)
ClinVarID: not present
CAID: CA2580612141
gnomAD: not present
MultipleGeneVariants:
-
Case#: Elayaperumal_2018_V-316, F, 1.5 y.o. (onset), origin in India
DiseaseAssertion: VWD type 3
FamilyInfo: Consanguinity: Yes, Family history: Yes
ParentalGenotype: not reported
CasePresentingHPOs:
CaseHPOFreeText: Bleeding score: 0, VWF:Ag 0, FVIII:C 3.4%
CaseNotHPOs:
CaseNotHPOFreeText:
CasePreviousTesting: not reported
GenotypingMethod: CSGE and Sanger sequencing of VWF gene only.
Gene: VWF
Variant: homozygous c.2749 2752dupCCCT (p.Val919Leufs*18)
HGVS: NM_000552.3:c.2749 2752dupCCCT
ClinVarID: not present
CAID: CA2695215955
gnomAD: not present
MultipleGeneVariants:
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
The 26-year-old female IP is diagnosed to have type 3 VWD, due to no detectable VWF in plasma (VWF antigen (VWF:Ag) level < 4%).
Case: Index Patient (IP), Female, 26 years old; described as from a genetically isolated population (not further specified), consistent with elevated homozygosity rates in that population. DiseaseAssertion: Type 3 VWD, confirmed by VWF:Ag <4 IU/dL (virtual absence of VWF). FamilyInfo: NA — no relatives' bleeding history or genotype reported ParentalGenotype(s): NA (not tested/not reported) CasePresentingHPOs: HP:0000421 (Epistaxis — frequent nosebleeds), HP:0000132 (Menorrhagia — heavy, prolonged, led to iron-deficiency anemia), HP:0001934 (Persistent bleeding after trauma — bleeding following injury), HP:0012147 (Reduced quantity of VWF; VWF:Ag <4 IU/dL), HP:0030129 (Impaired VWF:RCo-type activity; VWF:GPIbM <4 IU/dL) CaseHPOFreeText: Easy bruising (no matching HPO code in the approved list); FVIII:C 2.0 IU/dL (nv 70–157); referred to Hemophilia Centre at age 1 for bleeding complications; declined recommended lifelong prophylaxis due to injection discomfort, later underwent prophylaxis with plasma-derived VWF/FVIII concentrates and on-demand treatment (tranexamic acid, oral contraceptives, replacement therapy). Supporting functional evidence from patient-derived endothelial colony-forming cells (ECFCs): virtual absence of VWF mRNA (RQ ~0.04–0.05 vs. 1.00 in healthy controls, across 4 primer/probe sets); VWF secretion into ECFC medium 6.2% ± 0.4% of healthy controls (p<0.0001); near-total absence of Weibel-Palade bodies on immunofluorescence (only 1–3 small WPBs seen in some cells vs. normal stick-shaped WPBs in controls); altered intracellular trafficking of angiopoietin-2 (WPB inflammatory cargo) in the absence of WPBs. CaseNOTHPOs: NA CaseNOTHPOFreeText: NA CasePreviousTesting: Routine testing (Sanger sequencing of coding exons, ~50 bp flanking intronic regions, promoter, 5'/3'-UTR, plus MLPA) was negative — patient was "mutation-negative" prior to this study. Not genome-wide; targeted to VWF only, but comprehensive: this study's NGS covered the entire 176 kb VWF locus (all 52 exons, full intronic regions, promoter) at 30x coverage, going well beyond standard exon+flanking-intron approaches specifically to find deep intronic variants. GenotypingMethod: Illumina NovaSeq 6000 NGS (2×150 bp reads) of the whole VWF genomic region; variant annotation via Ensembl VEP with SpliceAI, PolyPhen-2, SIFT; splice effect independently confirmed with Neural Network Splicing, ASSP, and MaxEnt/HSF prediction tools. Functional validation via patient-derived ECFCs: RT-qPCR of VWF mRNA (4 primer/probe sets), cDNA sequencing, VWF:Ag ELISA of ECFC secretion, immunofluorescence microscopy, and whole-transcriptome RNA-seq. PreviouslyPublished: NA — no indication this patient was reported elsewhere; paper explicitly frames this variant/mechanism as a first report. Gene: VWF Variant: Novel homozygous deep intronic variant, intron 8, creating a new donor splice site that outcompetes the native donor site, causing inclusion of a 118-bp pseudoexon, frameshift, premature stop codon, and nonsense-mediated decay of the transcript. HGVS: NM_000552.5:c.997+118T>G (confirmed via ClinGen Allele Registry Community Standard Title; not explicitly stated in the paper's main text, which only gives cDNA/genomic coordinates without a transcript version). Genomic: g.6073501A>C (GRCh38/hg38; note the T>G/A>C discrepancy reflects VWF being transcribed from the minus strand of chr12). ClinVarID: NA CAID: CA3275979827 gnomAD: NA
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A Homozygous Deep Intronic Variant Causes Von Willebrand Factor Deficiency and Lack of Endothelial-Specific Secretory Organelles, Weibel–Palade Bodies
PMID: 35328514 Gene: VWF HGNCID: HGNC:12726
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Von Willebrand's disease: case report and review of literature
PMID: 28904675
Gene: VWF
HGNCID: 12726
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www.thieme-connect.com www.thieme-connect.com
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Val1316Met
Gene:VWF
HGNCID:12726
Case:Preterm female newborn delivered by C/S
DiseaseAssertion:VWD Type 2B
FamilyInfo:Fig. 1 Father with VWD 2B and two paternal half-brothers diagnosed with hematomas after birth
ParentalGenotype(s):heterozygous carrier p.(Val1316Met) confirmed in the father, half-brothers were not tested
CasePresentingHPOs: HP:0001873, HP:0012147
CaseHPOFreeRext:Multiple hematomas, no cerebral hemorrhage
CaseNOTHPOs:HP:0030130
CaseNOTHPOFreeText:analyses showed reduced VWF activity levels (40% at postnatal day 7), whereas VWF antigen was normal (146% at postnatal day 7)
CasePreviousTesting:No . Gene:VWF
Variant:p.Val1316Met
HGVS:NM_000552.4:c.3946G>A
ClinVarID:290
CAID:CA114127
gnomAD:6.20e-7
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Combined effects of two mutations in von Willebrand disease 2M phenotype
PMID: 30046717
Gene: von Willebrand Factor (VWF)
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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rs2676073266132007c.3437A > G26p.Y1146C1042A
Case: n.a.
DiseaseAssertion: VWD 2A
FamilyInfo: n.a.
ParentalGenotype(s):n.a.
CasePresentingHPOs:n.a.
CaseHPOFreeRext:n.a.
CaseNOTHPOs:n.a.
CaseNOTHPOFreeText:n.a.
CasePreviousTesting:n.a.
GenotypingMethod:n.a.
PreviouslyPublished: If applicable.n.a.
Gene:VWF
Variant:NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys)
HGVS:NM_000552.5:c.3437A>G
ClinVarID:31009
CAID:n.a.
gnomAD:n.a.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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A case of autoimmune severe acquired von Willebrand syndrome (type 3-like)
PMID: 28512017
Gene: VWF
HGNCID: 12726
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www.jci.org www.jci.org
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Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences.
PMID: 2010538
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2B
MONDO: 0015629
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
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www.sciencedirect.com www.sciencedirect.com
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Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis
PMID 16322474
Notes Recombinant full length p.Ile1628Thr expressed in HEK293 and purified from growth media was NOT digested by recombinant ADAMTS13 in non-denaturing conditions (Table 1, Fig 5a). However, the the A1-A3 p.Ile1628Thr truncations were digested by ADAMTS13 in non-denaturing conditions while WT recombinant VWF truncations were not (Fig 6).
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link.springer.com link.springer.com
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Combination therapy with von Willebrand factor concentrate plus recombinant factor VIII during cesarean section in a patient with type 3 von Willebrand disease and a low inhibitor titer: a case report
PMID: 35532874
Gene: VWF
HGNCID: 12726
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academic.oup.com academic.oup.com
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Coagulation Testing in the Core Laboratory
PMID: 29126301
Gene: VWF
HGNC: 12726 (type 1)
Note: This article is about platelet coagulation and how to test it.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects
PMID:35020809 Gene:VWF HGNC ID:12726
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oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu
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Pregnancy loss in women with von Willebrand disease : a single-center pilot study
PMID: 28151804
Gene: VWF
HGNCID: 12726
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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A case of type 2N von Willebrand disease with homozygous R816W mutation of the VWF gene in a Nepalese woman
PMID: 18728373
Gene: VWF
HGNCID: 12726
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov20091
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The patient investigated (proband
Case-Individual:
Case: 50-year old male of consanguinous parents
DiseaseAssertion: severe Type 1 Von Willebrand Disease, previously misclassified as Type 3
Family Info: Proband's parents and offspring had the same mutation, but at the heterozygous level; all asymptomatic
Parental Genotype: N/A
CasePresentingHPOs: HP:0000421, HP:0030140, HP:0006298, HP:0005261
Epistaxis, oral cavity bleeding, severe hemorrhagic complications after tooth extractions (HP is called Prolonged bleeding after dental extraction), hemarthrosis (joint bleeding)
CaseHPOFreeRext: Lifelong history of severe bleeding, frequent hematomas, bleeding from minor wounds (possibly HP:0030138, excessive bleeding from superficial cuts), impaired hemostatic picture, extremely high ISTH bleeding score (proband's was 30 whereas males usually range from 0-3)
CaseNOTHPOs: N/A
CaseNOTHPOFreeText: N/A
CasePreviousTesting: N/A
GenotypingMethod: Sequencing reactions were performed in an ABI3130 XL Genetic Analyzer; digital droplet polymerase chain reaction (ddPCR) assays were performed (in multiplex); in vitro expression also performed, then electrophoresis system used to run Western blot
Gene: VWD
HGVS: NM_000552.5:c.2269_2270del
Variant: Gene null homozygous c.2269_2270del mutation
ClinVarID: 100207
CAID: CA228313
gnomAD: MAF of 0.000002542 (3 of 1180022 alleles) in the European non-Finnish population
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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A prospective diagnostic accuracy study evaluating rotational thromboelastometry and thromboelastography in 100 patients with von Willebrand disease
PMID: 27785858
Gene: VWF
HGNCID: 12726
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onlinelibrary-wiley-com.proxy.lib.umich.edu onlinelibrary-wiley-com.proxy.lib.umich.edu
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6-months-old
Case: 8 years old female, age of genetic diagnosis; 6-months-old, when first presented with bilateral in-toeing
DiseaseAssertion: related to neurological symptoms, difficult to say which type of VWD she has
FamilyInfo: great uncle with "clubfoot"
CasePresentingHPOs: HP:0007340, HP:0001347, HP:0001771,
CaseHPOFreeText: Talipes equinovarus bilaterally
Gene: VWA1
Variant: c.62_71dup (p.Gly25ArgfsTer74)
HGVS: NM_022834.5:c.62_71dup
ClinVar: 830327
gnomAD: allele frequency: 0.0003330, https://gnomad.broadinstitute.org/variant/1-1371178-T-TGGCGCGGAGC?dataset=gnomad_r2_1
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Bleeding score in Type 1 von Willebrand disease patients using the ISTH-BAT questionnaire A. Pathare, Corresponding Author A. Pathare avp16@hotmail.com orcid.org/0000-0003-3205-0611 Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, Oman Correspondence Dr. Anil Pathare, Department of Haematology, Sultan Qaboos University Hospital, Muscat, Oman. Email: avp16@hotmail.comSearch for more papers by this authorS. Al Omrani, S. Al Omrani Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, OmanSearch for more papers by this authorF. Al Hajri, F. Al Hajri Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, OmanSearch for more papers by this authorN. Al Obaidani, N. Al Obaidani Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, OmanSearch for more papers by this authorB. Al Balushi, B. Al Balushi Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, OmanSearch for more papers by this authorK. Al Falahi, K. Al Falahi Department of Haematology, College of Medicine & Health Sciences, Sultan Qaboos University Hospital, Muscat, OmanSearch for more papers by this author
PMID: 29115727
Gene: VWF
HGNC: 12726 (type 1)
Note: This article is about how the median ISTH-BAT questionnaire score for VWD type 1 was 7 (IQR; 2,11).
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www.sciencedirect.com www.sciencedirect.com
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103< 1< 13−−18Mc.2269_2270delCT/c.2435delCp.L757VfsX22/p.P812RfsX3117/1817/18PD/PD
Case: Patient 10, M, Hungarian
DiseaseAssertion: VWD type 3
FamilyInfo: compatible with recessive inheritance
ParentalGenotype(s): n/a
CasePresentingHPOs: n/a
CaseHPOFreeRext: Bleeding score: 18, VWF:Ag (IU dL−1): < 1, VWF:CB (IU dL−1): < 1, FVIII:C (IU dL−1): 3, VWF:RCo below detection limit (<10 IU dL−1), not detectable VWF on multimer gels
CaseNOTHPOs: n/a
CaseNOTHPOFreeText: no inhibitor detected, did not become refractory to factor replacement therapy
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.2269_2270delCT (p.L757VfsX22), Exon 17
c.2435delC (p.P812RfsX31), Exon 18
Intron 40 VNTR: 17/18
Note: multimer electrophoresis, Recombinant VWF antigen concentrations and Collagen binding activity (VWF:CB) measured by ELISA, direct sequencing of the 51 exons and the exon‐intron boundaries, Breakpoint analysis and breakpoint‐specific PCR
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173< 1< 14−−18Fc.7333delG/c.7703C>Ap.E2445RfsX16/p.S2568X43/4517/18N/N
Case: Patient 17, F, Hungarian
DiseaseAssertion: VWD type 3
FamilyInfo: compatible with recessive inheritance
ParentalGenotype(s): n/a
CasePresentingHPOs: n/a
CaseHPOFreeRext: Bleeding score: 18, VWF:Ag (IU dL−1): < 1, VWF:CB (IU dL−1): < 1, FVIII:C (IU dL−1): 4, VWF:RCo below detection limit (<10 IU dL−1), not detectable VWF on multimer gels, bleeding episode severity increased after the menarche
CaseNOTHPOs: n/a
CaseNOTHPOFreeText: no inhibitor detecteddid not become refractory to factor replacement therapy
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.7333delG (p.Glu2445ArgfsX16), Exon 43
c.7703C>A (p.Ser2568X), Exon 45
Intron 40 VNTR 17/18
Note: multimer electrophoresis, Recombinant VWF antigen concentrations and Collagen binding activity (VWF:CB) measured by ELISA, direct sequencing of the 51 exons and the exon‐intron boundaries, Breakpoint analysis and breakpoint‐specific PCR
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123117−−32Fc.2124_2125delCT/c.2124_2125delCTp.C709LfsX3/p.C709LfsX316/1618/18PD/PD
Case: Patient 12, F, Hungarian
DiseaseAssertion: VWD type 3
FamilyInfo: compatible with recessive inheritance
ParentalGenotype(s): n/a
CasePresentingHPOs: n/a
CaseHPOFreeRext: Bleeding score: 32, VWF:Ag (IU dL−1): 1, VWF:CB (IU dL−1): 1, FVIII:C (IU dL−1): 7, VWF:RCo below detection limit (<10 IU dL−1), not detectable VWF on multimer gels, bleeding episode severity increased after the menarche
CaseNOTHPOs: n/a
CaseNOTHPOFreeText: no inhibitor detected, did not become refractory to factor replacement therapy
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.2124_2125delCT (p.Cys709LeufsX3), Exon 16, Homozygous
Intron 40 VNTR: 18/18
Note: multimer electrophoresis, Recombinant VWF antigen concentrations and Collagen binding activity (VWF:CB) measured by ELISA, direct sequencing of the 51 exons and the exon‐intron boundaries, Breakpoint analysis and breakpoint‐specific PCR
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83112−−19Mc.2435delC/c.2435delCp.P812RfsX31/p.P812RfsX3118/1819/19PD/PD
Case: Patient 8, M, Hungarian
DiseaseAssertion: VWD type 3
FamilyInfo: compatible with recessive inheritance
ParentalGenotype(s): n/a
CasePresentingHPOs: n/a
CaseHPOFreeRext: Bleeding score: 19, VWF:Ag (IU dL−1): 1, VWF:CB (IU dL−1): 1, FVIII:C (IU dL−1): 2, VWF:RCo below detection limit (<10 IU dL−1), not detectable VWF on multimer gels
CaseNOTHPOs: n/a
CaseNOTHPOFreeText: no inhibitor detected, did not become refractory to factor replacement therapy
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.2435delC (p.Pro812ArgfsX31), Exon 18, Homozygous
Intron 40 VNTR: 19/19
Note: multimer electrophoresis, Recombinant VWF antigen concentrations and Collagen binding activity (VWF:CB) measured by ELISA, direct sequencing of the 51 exons and the exon‐intron boundaries, Breakpoint analysis and breakpoint‐specific PCR
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15*3113−−NDFc.3379+1G>A/c.3379+1G>ASplice/Splice25/2518/18PD/PD
Case: Patient 15, F, Hungarian
DiseaseAssertion: VWD type 3
FamilyInfo: compatible with recessive inheritance
ParentalGenotype(s): n/a
CasePresentingHPOs: n/a
CaseHPOFreeRext: VWF:Ag (IU dL−1): 1, VWF:CB (IU dL−1): 1, FVIII:C (IU dL−1): 3, VWF:RCo below detection limit (<10 IU dL−1), not detectable VWF on multimer gels, bleeding episode severity increased after the menarche
CaseNOTHPOs: n/a
CaseNOTHPOFreeText: no inhibitor detected, did not become refractory to factor replacement therapy
CasePreviousTesting: n/a
Gene: VWF
Variant:
c.3379+1G>A (Splice), Exon 25, Homozygous
(p.Arg924Gln), Exon 21, Homozygous
Intron 40 VNTR 18/18
Note: multimer electrophoresis, Recombinant VWF antigen concentrations and Collagen binding activity (VWF:CB) measured by ELISA, direct sequencing of the 51 exons and the exon‐intron boundaries, Breakpoint analysis and breakpoint‐specific PCR
Tags
- Zygosity:Homozygous
- Mutation:p.Arg924Gln
- CAID:CA2617226909
- CAID:CA228398
- Mutation:Missense
- DiseaseEntity:VWD3
- CAID:CA228313
- Mutation:Nonsense
- CAID:CA228309
- ClinGen VWF
- DiseaseEntity: VWD3
- CAID:CA114153
- CAID:CA383489253
- Mutation:Intronic
- inferred_gene_hgnc:12726
- inferred_gene_source:CAID
- Mutation:Frameshift
- Zygosity:CompoundHeterozygous
Annotators
URL
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Gene cloning and difference analysis of vitellogenin in Neoseiulus barkeri (Hughes)
PMID: 28693644
Gene: VWF
HGNCID: 12726
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ashpublications-org.libproxy.lib.unc.edu ashpublications-org.libproxy.lib.unc.edu
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In family 1, the proposita (1A)
Case#: 1A
DiseaseAssertion:
FamilyInfo: Family 1. Her 2 offspring, 1B (son) and 1C (daughter), reported minor bleeding symptoms that had not required treatment. 1B was found to be heterozygous for Trp1745Cys only and 1C was heterozygous for Arg760His only, confirming that these mutations are in trans in 1A.
CaseHPOFreeText4: was an elderly woman with lifelong bleeding episodes, including epistaxis, ecchymosis, menorrhagia, and prolonged bleeding after dental extractions, requiring multiple medical interventions. The coexistence of both mutations appears to produce a more significant bleeding disorder as the bleeding score in 1A (8) was higher than that in either of her children (4 and 2). The position of Trp1745 in the A3 domain is shown in Figure 2. Both persons with this mutation (1A and 1B) had markedly reduced ratios of VWF collagen-binding activity to VWF antigen (CB:Ag) with type III collagen (0.1 and 0.3, respectively) and type I collagen (0.2 and 0.3, respectively). The ratio of VWF:RCo to VWF:Ag (RCo:Ag) was near unity in both persons, and VWF multimer analysis (Figure 1B) and RIPA were normal. Closure times in the PFA-100 were mildly prolonged with the ADP cartridge (1A = 173 seconds, 1B = 189 seconds, NR < 112 seconds). With the epinephrine cartridge, the closure time was prolonged in 1A only (1A = 271 seconds, 1B = 90 seconds, NR < 179 seconds).
CasePreviousTesting: Fifty-one primer sets were used to amplify the essential regions of VWF (52 exons, flanking intronic regions, 5′ promoter region, and the 3′ untranslated region).
Gene: VWF
Variant: 1A demonstrated compound heterozygosity for 2 mutations in the VWF gene. The first is a novel mutation in exon 30:c.5235 G → T resulting in Trp1745Cys and the second is c.2279 G → A resulting in Arg760His.
HGVS: NM_000552.5(VWF):c.5235G>T (p.Trp1745Cys), NM_000552.5(VWF):c.2279G>A (p.Arg760His)
ClinVar: 100421, 31011
CAID: CA228706, CA228316
gnomAD: 8.474e-7 in the european non finnish pop, 0.00002669 in the African American population
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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55-year-old Italian man
Case: 55-year-old Italian, male
DiseaseAssertion: VWD, Type 2B
FamilyInfo: Patient did not report any family history of bleeding and his daughter did not show any menorrhagia and hemorrhagic disorder. Genotyping for daughter was negative for variants of interest. Paternity of daughter established. Testing performed on both daughter and wife.
ParentalGenotype(s): No genotyping available on parents, as they were deceased.
CasePresentingHPOs: HP:0000421, HP:0004846, HP:0012147, HP:0030129, HP:0030130, . HP:0030132, HP:0011871, HP:0003645
CaseHPOFreeRext: aPTT,s=45.4, Fibrinogen,mg/dL=349, VFG:Ag, IU/dL=23.4, VWF:RCo, IU/dL=8.5, VWF:CBA, IU/dL=7.2, FVIII:C, IU/dL=28.2, VWFpp, %=63.4, VWF:RCo/VWF:Ag =0.36, VWF:CBA/VWF:Ag=0.31, VWFpp/VWF:Ag=2.7, FVIII/VWF:Ag=1.2,FVIII/VWF:binding, %=127.8, ADAMTS-13 act, U/dL=110.1, Platelets, ×109/L=121-166, Hb, g/dL=8.1-15.1, Blood group= A-Rh +Rh phenotype: ccDEe Kell/Cellano phenotype: kk
CaseNOTHPOs: none
CaseNOTHPOFreeText: none
CasePreviousTesting: none
GenotypingMethod: Molecular genetic analysis of the VWF gene was performed using 3100-Avant Genetic Analyzer. Sanger-sequencing procedures were carried out to validate the identified genetic variants.
PreviouslyPublished:
1) PMID: 27007659
2) PMID: 20492463
Gene: VWF
Variant:
1) c.2771G>A p.R924Q, exon 21, D′D3 domain,cis heterozygous
2) c.6532G>T p.A2178S, exon 37, cis heterozygous
HGVS:
1) NC_000012.12:g.6031493C>T, NC_000012.11:g.6140659C>T, NG_009072.2:g.98178G>A, NM_000552.5:c.2771G>A, NM_000552.4:c.2771G>A, NM_000552.3:c.2771G>A, XM_047429501.1:c.2771G>A, NP_000543.3:p.Arg924Gln, XP_047285457.1:p.Arg924Gln
2) NC_000012.12:g.5993928C>A, NC_000012.12:g.5993928C>T, NC_000012.11:g.6103094C>A, NC_000012.11:g.6103094C>T, NG_009072.2:g.135743G>T, NG_009072.2:g.135743G>A, NM_000552.5:c.6532G>T, NM_000552.5:c.6532G>A, NM_000552.4:c.6532G>T, NM_000552.4:c.6532G>A, NM_000552.3:c.6532G>T, NM_000552.3:c.6532G>A, XM_047429501.1:c.6532G>T, XM_047429501.1:c.6532G>A, NP_000543.3:p.Ala2178Ser, NP_000543.3:p.Ala2178Thr, XP_047285457.1:p.Ala2178Ser, XP_047285457.1:p.Ala2178Thr
ClinVarID:
1) 100240
2) 619942
CAID:
1) CA228368
2) CA6401974
gnomAD:
1) European (non-Finnish) 0.02225 https://gnomad.broadinstitute.org/variant/12-6031493-C-T?dataset=gnomad_r4
2) European (non-Finnish) 0.02318 https://gnomad.broadinstitute.org/variant/12-5993928-C-A?dataset=gnomad_r4
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr).
PMID: 1673047
Gene: VWF
HGNCID: 12726
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www.jthjournal.org www.jthjournal.org
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homozygous c.2311A>G
Gene:VWF
HGNCID:12726
Case:13 yo female
DiseaseAssertion: Type 2N
FamilyInfo:Fig. 1, family 2, patient 7
ParentalGenotype(s):Unknown, obligate carriers
CasePresentingHPOs:HP:0000421, HP:0004846, HP:0012147 HP:0030132, HP:0030130
CaseHPOFreeRext:Oral cavity and joint bleeding, VWF:Ag 0.07 U/mL, VWF:Ac 0 U/mL, VWF:CB 0.05 U/mL, FVIII 0.04 U/mL, No VWF Multimers
GenotypingMethod: NGS
Gene:VWF
Variant:c.2311A>G
HGVS:NM_000552.5(VWF):c.2311A>G
ClinVarID:1065273
CAID:CA383522481
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homozygous c.2311A>G
Gene:VWF
HGNCID:12726
Case:27 yo male
DiseaseAssertion: Type 2N
FamilyInfo:Fig. 1, family 1, patient 2
ParentalGenotype(s):Unknown, obligate carriers
CasePresentingHPOs:HP:0000421, HP:0012147 HP:0030132, HP:0030130
CaseHPOFreeRext:Skin, oral cavity, and joint bleeding, Bleeding after tooth extractions and small wounds, VWF: Ag 0.07 U/mL, VWF:Act 0.05 U/mL, VWF:CB <0.05 U/mL, FVIII:C 0.01 U/mL, Less VWF Multimers
GenotypingMethod: NGS
Gene:VWF
Variant:c.2311A>G
HGVS:NM_000552.5(VWF):c.2311A>G
ClinVarID:1065273
CAID:CA383522481
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homozygous c.2311A>G
Gene:VWF
HGNCID:12726
Case:17 yo male
DiseaseAssertion: Type 2N
FamilyInfo:Fig. 1, family 1, patient 3
ParentalGenotype(s):Unknown, obligate carriers
CasePresentingHPOs:HP:0000421, HP:0012147 HP:0030132, HP:0030130
CaseHPOFreeRext:Oral cavity, skin, and muscle bleeding, Bleeding after tooth extractions, VWF: Ag 0.09 U/mL, VWF:Act 0.05 U/mL, VWF:CB 0.04 U/mL, FVIII:C 0.01 U/mL, No VWF Multimers
GenotypingMethod: NGS
Gene:VWF
Variant:c.2311A>G
HGVS:NM_000552.5(VWF):c.2311A>G
ClinVarID:1065273
CAID:CA383522481
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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His mother also had a history of epistaxis, menorrhagia and anemia
Case: Patient IV-4, Female (mother of proband V-2) DiseaseAssertion: Type 2A VWD, based on history of abnormal bleeding, low plasma VWF:Ag and activity, and lack of plasma HMW VWF multimers. FamilyInfo: Mother of proband V-2; part of 5-affected-member pedigree (Fig. 1). ParentalGenotype(s): Not described (her own parents' genotype status not reported in extracted text — see Figure 1). CasePresentingHPOs: HP:0000421 (Epistaxis), HP:0000132 (Menorrhagia), HP:0012147 (Reduced quantity of VWF; VWF:Ag 21.7 U/dL), HP:0030129 (Impaired VWF:RCo; VWF:Rco 5.0 U/dL), HP:0030132 (Absence of large VWF multimers — plasma), HP:0011871 (Impaired RIPA; 3.0%), HP:0003645 (Prolonged partial thromboplastin time; APTT 46.1 sec) CaseHPOFreeText: Anemia (secondary to menorrhagia; no matching HPO code in the approved list); FVIII:C not tested (N/A); TT 18.1 sec and PT 14.1 sec both within normal range. CaseNOTHPOs: NA CaseNOTHPOFreeText: Platelet VWF multimer status NOT tested for this patient ("Platelet samples were not available from IV-4") — do not assume the "normal platelet multimers" finding reported for the other four affected members applies here. CasePreviousTesting: Targeted confirmation of the familial VWF variant (not described as independent full 52-exon screening for this individual specifically); not genome-wide. GenotypingMethod: Sanger sequencing/allele-specific analysis, same platform as proband (Applied Biosystems 310 DNA analyzer). PreviouslyPublished: NA Gene: VWF Variant: Same novel heterozygous in-frame 6-bp deletion, exon 28, ΔD1529V1530 (VWF A2 domain) HGVS: c.4585_4590del (p.Asp1529_Val1530del) ClinVarID: NA CAID: NA gnomAD: NA
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IV-2
Case: Patient IV-2 (daughter of III-3; first cousin of proband's mother IV-4) DiseaseAssertion: Type 2A VWD, based on low plasma VWF:Ag and activity and lack of plasma HMW VWF multimers. FamilyInfo: Daughter of III-3 (proband's granduncle); first cousin of IV-4 (proband's mother); part of 5-affected-member pedigree (Fig. 1). ParentalGenotype(s): Father (III-3) heterozygous for the variant, affected. Mother's genotype not reported. CasePresentingHPOs: HP:0012147 (Reduced quantity of VWF; VWF:Ag 30.4 U/dL), HP:0030129 (Impaired VWF:RCo; VWF:Rco 8.4 U/dL), HP:0030132 (Absence of large VWF multimers — plasma), HP:0003645 (Prolonged partial thromboplastin time; APTT 45.8 sec) CaseHPOFreeText: Described only generically as having "abnormal bleedings" / "similar clinical symptoms" — no itemized bleeding symptoms given specifically for this individual. FVIII:C 50.0 U/dL — at the exact lower limit of normal (nv 50-150), notably higher than the other affected members. RIPA not tested (N/A). TT 15.6 sec and PT 13.8 sec both within normal range. CaseNOTHPOs: NA CaseNOTHPOFreeText: Platelet-associated VWF multimers normal (HMW multimers present) per the group finding covering this patient. CasePreviousTesting: Targeted confirmation of the familial VWF variant; not genome-wide. GenotypingMethod: Sanger sequencing/allele-specific analysis, same platform as proband. PreviouslyPublished: NA Gene: VWF Variant: Same novel heterozygous in-frame 6-bp deletion, exon 28, ΔD1529V1530 (VWF A2 domain) HGVS: c.4585_4590del (p.Asp1529_Val1530del) ClinVarID: NA CAID: NA gnomAD: NA
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Expression studies on a novel type 2B variant of the von Willebrand factor gene (R1308L) characterized by defective collagen binding
PMID: 16985174
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2B
MONDO: 0015629
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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Reply to comment on: Generation and optimization of the self-administered pediatric bleeding questionnaire and its validation as a screening tool for von Willebrand disease
PMID: 28792666
Gene: VWF
HGNCID: 12726
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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An apparently silent nucleotide substitution (c.7056C>T) in the von Willebrand factor gene is responsible for type 1 von Willebrand disease
PMID: 21393328
Gene: VWF
HGNCID: 12726
Case: proband (III-3 in Fig.1) is 15 year old female
DiseaseAssertion: type 1 VWD
FamilyInfo: Mother (II-3 in Fig.1) and grandmother (I-1) are symptomatic (moderate clinical bleeding symptoms). Father and sister asymptomatic.
ParentalGenotype(s): mother c.7056 C>T
CasePresentingHPOs: HP:0000421, HP:0000132, HP:0011889, HP:0000225
CaseHPOFreeRext: mild decrease in VWF:Ag, VWF:CB and VWF:RCo. platelet VWF:Ag content was reduced. Decreased VWF multimer levels
GenotypingMethod: Sanger sequencing, cDNA analysis
Gene: VWF
Variant: c.7056 C>T (affects splicing) aka c.7055_7081del
ClinVarID: 631688
gnomAD: AF=0.000007993 gnomAD aggregated (2/250226 alleles) https://gnomad.broadinstitute.org/variant/12-6092341-G-A?dataset=gnomad_r2_1
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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22
Case22: Male, 0.5 yr onset, 1 yr diagnosis, 1.3 yr report
HPOsFreeText: Wheelchair used at 4 yr, Died of respiratory failure at 10 yr, FVC z-score sitting -4.77 (45% pred) at 9 yr, 586 CK U/l, Deficient GAA activity (nmol/h/mg)^h from cultured fibroblasts
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Local file Local file
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9
Case9: Female, 5 years old, Indian
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: HP:0000421 (Epistaxis)
CaseHPOFreeText: Hematomas at the site of injury
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
ProteinExpression: HP:0000421
PlateletAggregation: Diagnosis of GT was made on the basis of impaired platelet aggregation (platelet aggregation was tested against ristocetin, ADP, collagen, epinephrine and arachidonic acid)
CasePreviousTesting: Multiplex PCR by using GPIIb primers and CSGE analysis were performed
Gene: ITGA2B
Variant: NM_000419.3:c.1230del
LegacyVariant: N/A
ClinVar: N/A
CAiD: CA915940214
gnomAD: N/A
Tags
- Individual
- InheritancePattern:NoInheritanceAssertion
- ProteinExpression:Reported
- ClinGen ITGA2B/ITGB3
- DiseaseEntity:GlanzmannThrombasthenia
- PreviousTesting:Partial
- CaseInfo
- inferred_gene_source:CAID
- Gene:ITGA2B
- Zygosity:NoZygosityAssertion
- inferred_gene_hgnc:6138
- CAiD:CA915940214
- Mutation:Frameshift
- PlateletAggregation:Reported
Annotators
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