The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome
PMID: 35729508
Gene: GALNS
Disease: Mucopolysaccharidosis Type IVA
MonDO: MONDO:0009659
InheritancePattern: AR
Notes: Case Study - 23 probands
Association between aplastic anaemia and mutations in telomerase RNA
PMID: 12090986
Gene: TERC
Disease: Dyskeratosis congenita & bone marrow failure/pulmonary fibrosis
MonDO: MONDO:0007485, MONDO:0013879
InheritancePattern: AD
Notes: variants: NR_001566.1:n.58G>A, NR_001566.1:n.72C>G, NR_001566.1:n.110_113del
Recurrent episodes of anaphylaxis in a patient with haemophilia B: a case report
PMID: 27177407
Gene: F9
HGNCID: 3551
The proband was a 12-year-old boy
PMID: 31904612
Gene: F9
HGNCID: 3551
Recurrent mutations in the factor IX gene: founder effect or repeat de novo events
PMID: 8365725
Gene: F9
HGNCL: 3551
PMID: 16643212
Gene: F9
HGNC: 3551
Double mutations causing haemophilia B: a double whammy!
PMID: 19236374
Gene: F9
HGNC: 3551
Molecular characterization of haemophilia B patients in southern Brazil
PMID: 28722788
Gene: F9
HGNC: 3551
Factor IX gene mutations in haemophilia B: a New Zealand population-based study
PMID: 27213901
Gene: F9
HGNC: 3551
Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy
PMID: 34187575
Gene: F9
HGNC: 3551
Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations
PMID: 12588353
Gene: F9
HGNC: 3551
Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia a in southern Italy
PMID: 18388498
Gene: F8
HGNCID: 3546
Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position −4
PMID: 3009023
Gene: F9
HGNC: 3551
Risk factors for inhibitor development in severe hemophilia A
PMID: 29879570
Gene: F8
HGNC: 3546
InsufficientEvidence: This article is a review, so no new case reports have been mentioned here
PreviouslyPublished
A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability
PMID:
Gene: F9
HGNCID: 3551
Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations
PMID: 22544209
Gene: F9
HGNC: 3551
Analysis of 18 novel mutations in the factor VIII gene
PMID: 12930394
Gene: F8
HGNC ID: HGNC:3546
Identification of novel and recurrent mutations in Tunisian haemophilia B patients
PMID: 21118338
Gene: F9
HGNC: 3551
Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening
PMID: 31026269
Gene: F9
HGNC: 3551
Spectrum of F9 mutations in Chinese haemophilia B patients:identification of 20 novel mutations
PMID:
Gene: F9
HGNC: 3551
Mutation analysis of a cohort of US patients with hemophilia B
PMID: 24375831
Gene: F9
HGNC: 3551
Haplotype analysis of identical factor IX mutants using PCR
PMID: 1615486
Gene: F9
HGNC: 3551
Genetic analysis of a hemophilia B family with a novel F9 gene mutation
PMID: 31124946
Gene: F9
HGNCID: 3551
Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations
PMID: 10595634
Gene: F9
HGNC: 3551
Why Does the Human Factor IX Gene Have a G + CContent of 40%?
PMID: 1897528
Gene: F9
HGNC: 3551
Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoter
PMID: 30846504
Gene: F9
HGNC: 3551
PMID: 8772212
Gene: F9
HGNC: 3551
Severe bleeding due to hypersensitivity to vitamin K antagonist caused by the c.109G>A (p.Ala37Thr) mutation in the F9 gene in a patient with mechanical heart valve prosthesis
PMID: 30576981
Gene: F9
HGNC: 3551
A Novel Missense Mutation, E1623G, in the Human Factor VIII Gene Associated With Moderate Haemophilia A
PMID: 24719712
Gene: F8
HGNCID: 3546
Major bleeding in a patient with warfarin-hypersensitive and factor IX propeptide variant, p.Ala37Thr, who was treated with a direct oral anti-Xa inhibitor
PMID: 29923114
Gene: F9
HGNC: 3551
Effects of Exergames on Brain Dynamics in Women with Fibromyalgia: A Randomized Controlled Trial
PMID: 31336706
Gene: F8
NoEvidence: The aim of was to evaluate the effects of a 24-week "Exergame intervention" on resting brain dynamics in women with fibromyalgia in a single-blinded, randomized controlled trial. No mention of Hemophilia A or F8 gene.
Molecular Basis of Hemophilia B in Pakistan:Identification of Two Novel Mutation
PMID: None
Gene: F9
HGNC: 3551
Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation
PMID: 25390527
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
A nonhuman primate model of inherited retinal disease
PMID: 30667376
A developmentally regulated microsomal protein specific for the pigment epithelium of the vertebrate retina
PMID: 8474143
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
Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease
PMID: 25910211
Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q
PMID: 15024691
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.
RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping
PMID: 37806543
Gene: RBP3
HGNC: 9921
Disease: retinitis pigmentosa 66
MONDO: 0014093
InheritancePattern: autosomal recessive
Prevalence: RBP3-related cases are believed to be very rare (possibly with estimated prevalence of less than 1 in 1,000,000), however, it is believed that there may be under-diagnosis (PMID: 37806543).
Penetrance: RBP3 disease-causing variants appear to have complete penetrance.
Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors
PMID: 15190009
Gene: NR2E3
HGNC: 7974
Disease: enhanced S-cone syndrome
MONDO: 0100288
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of enhanced S cone syndrome is <1 in 1,000,000 (PMID: 30900587).
Penetrance: The penetrance of enhanced S-cone syndrome has been difficult to determine accurately given the rarity of the condition.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
PMID: 28041643
Gene: IMPG2
HGNC: 18362
Disease: retinitis pigmentosa 56
MONDO: 0013314
InheritancePattern: semi-dominant
Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
PMID: 28041643
TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells
PMID: 19861548
Gene: TRPM1
HGNC: 7146
Disease: congenital stationary night blindness 1C
MONDO: MONDO:0013183
InheritancePattern: autosomal recessive
Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1C specifically is unknown.
Penetrance: Penetrance is thought to be complete.
Osteoporosis-pseudoglioma syndrome: Description of 9 new cases and beneficial response to bisphosphonates
PMID: 18602879
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.
A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16)
PMID: 25921210
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.
A novel recurrent mutation in CFAP47 causes male infertility with asthenoteratozoospermia
PMID: N/A (available only on https://www.authorea.com/)
Gene: CFAP47
HGNC: 26708
Disease: X-linked spermatogenic failure 3
MONDO: MONDO:0025354
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of male infertility is between 1 in 10 and 1 in 50 males.
Penetrance: Known disease-causing alleles appear to be completely penetrant in hemizygous males.
Lentiviral Expression of Retinal Guanylate Cyclase-1 (RetGC1) Restores Vision in an Avian Model of Childhood Blindness
PMID: 16700630
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
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism
PMID: 18978956
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.
Hypoxia-regulated components of the U4/U6.U5 tri-small nuclear riboprotein complex: possible role in autosomal dominant retinitis pigmentosa
PMID: 18334927
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
PMID: 32817297
Gene: IMPG1
HGNC: 6055
Disease: vitelliform macular dystrophy 4
MONDO: 0014508
InheritancePattern: semi-dominant
Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation
PMID: 17516023
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.
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis
PMID: 30479745
Gene: IFT140
HGNC: 29077
Disease: Short-rib thoracic dysplasia 9 with or without polydactyly
MONDO: 0009964
InheritancePattern: autosomal recessive
Prevalence: Within the lumped disease entity for this curation, the most prevalent form may be retinitis pigmentosa. The prevalence of Saldino-Mainzer syndrome (one of the synonyms of Short-rib thoracic dysplasia 9) is less than 1 in 1,000,000. The prevalence of Leber congenital amaurosis cases caused by IFT140 variants (PMID: 26216056) is calculated to be less than 1 in 3,000,000. Although IFT140 variants are estimated to be responsible for less than 2% of RP, the prevalence of the overall disorder at 1 in 3,000 or 1 in 4,000 means the frequency of these cases could potentially be higher than 1 in 1,000,000.
Penetrance: Known variants for this lumped disease entity appear to be completely penetrant, with highly variable phenotypes and age of onset. On the other hand, the split disease entity caused by monoallelic IFT140 variants appears to have incomplete penetrance.
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking
PMID: 23572516
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.
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy
PMID: 8485576
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).
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)
PMID: 21407258
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.
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship
PMID: 19309691
Gene: CLN5
HGNC: 2076
Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)
MONDO: 0009745
InheritancePattern: Autosomal Recessive
Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)
Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life
EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones
PMID: 27846257
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.
Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis
PMID: 21763485
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.
Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform
PMID: 11535825
Gene: TRPM1
HGNC: 7146
Disease: congenital stationary night blindness 1C
MONDO: MONDO:0013183
InheritancePattern: autosomal recessive
Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1C specifically is unknown.
Penetrance: Penetrance is thought to be complete.
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations
PMID: 25359263
Gene: CLN5
HGNC: 2076
Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)
MONDO: 0009745
InheritancePattern: Autosomal Recessive
Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)
Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation
PMID: 26103963
Gene: PROM1
HGNC: 9454
Disease: retinitis pigmentosa 41
MONDO: 0012796
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). The proportion of that incidence made up by the specific form caused by biallelic variants in PROM1 is not clear.
Penetrance: Known disease-causing alleles appear to be completely penetrant in the homozygous state, and for at least some heterozygous variants associated with other disease entities.
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene
PMID: 21107338
GeneName: GNAT2
HGNC: 4394
Disease: achromatopsia 4
MonDO ID: MONDO_0013465
Inheritance: autosomal recessive
Clinical features of affected males with X linked ocular albinism
PMID: 8494858
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.
Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina
PMID: 17004930
Gene: NYX
HGNC: 8082
Disease: Congenital stationary night blindness 1A
MONDO: 0010690
InheritancePattern: X-linked recessive
Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1A specifically is unknown.
Penetrance: Penetrance is thought to be complete.
Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect
PMID: 9808841
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
Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns
PMID: 29178648
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
PMID: 28771251
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies
PMID: 18294254
Gene: NR2E3
HGNC: 7974
Disease: enhanced S-cone syndrome
MONDO: 0100288
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of enhanced S cone syndrome is <1 in 1,000,000 (PMID: 30900587).
Penetrance: The penetrance of enhanced S-cone syndrome has been difficult to determine accurately given the rarity of the condition.
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL
PMID: 20157158
Gene: CLN5
HGNC: 2076
Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)
MONDO: 0009745
InheritancePattern: Autosomal Recessive
Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)
Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase
PMID: 7493036
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.
TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia
PMID: 20889716
Gene: IFT140
HGNC: 29077
Disease: Short-rib thoracic dysplasia 9 with or without polydactyly
MONDO: 0009964
InheritancePattern: autosomal recessive
Prevalence: Within the lumped disease entity for this curation, the most prevalent form may be retinitis pigmentosa. The prevalence of Saldino-Mainzer syndrome (one of the synonyms of Short-rib thoracic dysplasia 9) is less than 1 in 1,000,000. The prevalence of Leber congenital amaurosis cases caused by IFT140 variants (PMID: 26216056) is calculated to be less than 1 in 3,000,000. Although IFT140 variants are estimated to be responsible for less than 2% of RP, the prevalence of the overall disorder at 1 in 3,000 or 1 in 4,000 means the frequency of these cases could potentially be higher than 1 in 1,000,000.
Penetrance: Known variants for this lumped disease entity appear to be completely penetrant, with highly variable phenotypes and age of onset. On the other hand, the split disease entity caused by monoallelic IFT140 variants appears to have incomplete penetrance.
Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor
PMID: 11956231
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.
Disease mechanisms of X‐linked cone dystrophy caused by missense mutations in the red and green cone opsins
PMID: 34547123
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).
A Novel GUCY2D Mutation, V933A, Causes Central Areolar Choroidal Dystrophy
PMID: 22695961
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.
Clinical and Molecular Landscape of GLRA2 in X-Linked Early-Onset High Myopia
PMID: 40227176
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).
Kinetics of visual pigment regeneration in excised mouse eyes and in mice with a targeted disruption of the gene encoding interphotoreceptor retinoid-binding protein or arrestin
PMID: 10508404
Gene: RBP3
HGNC: 9921
Disease: retinitis pigmentosa 66
MONDO: 0014093
InheritancePattern: autosomal recessive
Prevalence: RBP3-related cases are believed to be very rare (possibly with estimated prevalence of less than 1 in 1,000,000), however, it is believed that there may be under-diagnosis (PMID: 37806543).
Penetrance: RBP3 disease-causing variants appear to have complete penetrance.
The Role of Ceroid Lipofuscinosis Neuronal Protein 5 (CLN5) in Endosomal Sorting
PMID: 22431521
Gene: CLN5
HGNC: 2076
Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)
MONDO: 0009745
InheritancePattern: Autosomal Recessive
Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)
Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life
A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity
PMID: 18032602
Gene: BBS1
HGNC: 966
Disease: Bardet-Biedl syndrome 1
MONDO: 0008854
InheritancePattern: autosomal recessive
Prevalence: The prevalence of BBS1 variants among Bardet-Biedl syndrome cohorts has been reported as at least 20% (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.
Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model
PMID: 21039428
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.
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome
PMID: 23143442
Gene: BBS1
HGNC: 966
Disease: Bardet-Biedl syndrome 1
MONDO: 0008854
InheritancePattern: autosomal recessive
Prevalence: The prevalence of BBS1 variants among Bardet-Biedl syndrome cohorts has been reported as at least 20% (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.
A Naturally Occurring Mouse Model of Achromatopsia: Characterization of the Mutation in Cone Transducin and Subsequent Retinal Phenotype
PMID: 23580486
GeneName: GNAT2
HGNC: 4394
Disease: achromatopsia 4
MonDO ID: MONDO_0013465
Inheritance: autosomal recessive
The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond
PMID: 30668888
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
Novel Mutation in the TIMP3 Gene Causes Sorsby Fundus Dystrophy
PMID: 11879143
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
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
PMID: 9295268
Gene: ABCA4
HGNC: 34
Disease: age related macular degeneration 2
MONDO: 0007932
InheritancePattern: autosomal dominant
Prevalence: The overall prevalence of age-related macular degeneration is estimated to be 9.9-19.5% (early-stage) or 1.1-3.9% (late-stage) among all people over age 50 years (PMID: 31712255).
Penetrance: The penetrance of proposed disease-causing alleles is not clear but is expected to be incomplete and age-dependent.
Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis
PMID: 2280973
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.
Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus
PMID: 18523664
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.
Retinal findings in a patient of French ancestry with CABP4-related retinal disease
PMID: 29525873
Gene: CABP4
HGNC: 1386
Disease: cone-rod synaptic disorder, congenital nonprogressive
MONDO: 0012490
InheritancePattern: autosomal recessive
Prevalence: The prevalence of the Åland eye disease or incomplete congenital stationary night blindness phenotype was estimated at 1 in 22,000 based on a Danish male cohort, with CABP4 variants specifically responsible for 1 out of 35 cases (PMID: 28002560).
Penetrance: Penetrance appears to be 100% among the reported individuals harboring biallelic disease-causing CABP4 variants.
Phenotypic expansion of KCNJ13- associated snowflake vitreoretinal degeneration
PMID: 36440807
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).
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period
PMID: 32531858
Gene: IMPG1
HGNC: 6055
Disease: vitelliform macular dystrophy 4
MONDO: 0014508
InheritancePattern: semi-dominant
Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.
Regulation of melanosome number, shape and movement in the zebrafish retinal pigment epithelium by OA1 and PMEL
PMID: 25690007
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.
Whole Exome Sequencing Reveals Potentially Pathogenic Variants in a Small Subset of Premenopausal Women with Idiopathic Osteoporosis
PMID:34743040
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.
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population
PMID: 19402160
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.
Mutations in human IFT140 cause non-syndromic retinal degeneration
PMID: 26216056
Gene: IFT140
HGNC: 29077
Disease: Short-rib thoracic dysplasia 9 with or without polydactyly
MONDO: 0009964
InheritancePattern: autosomal recessive
Prevalence: Within the lumped disease entity for this curation, the most prevalent form may be retinitis pigmentosa. The prevalence of Saldino-Mainzer syndrome (one of the synonyms of Short-rib thoracic dysplasia 9) is less than 1 in 1,000,000. The prevalence of Leber congenital amaurosis cases caused by IFT140 variants (PMID: 26216056) is calculated to be less than 1 in 3,000,000. Although IFT140 variants are estimated to be responsible for less than 2% of RP, the prevalence of the overall disorder at 1 in 3,000 or 1 in 4,000 means the frequency of these cases could potentially be higher than 1 in 1,000,000.
Penetrance: Known variants for this lumped disease entity appear to be completely penetrant, with highly variable phenotypes and age of onset. On the other hand, the split disease entity caused by monoallelic IFT140 variants appears to have incomplete penetrance.
LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
PMID: 11719191
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.
Interphotoreceptor Retinoid-Binding Protein (IRBP) in Retinal Health and Disease
PMID: 33328889
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.
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
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.
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.
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).
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).
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.
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
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
Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy
PMID: 35608844
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
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
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.
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.
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).
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.
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.
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
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).
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).
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.
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.
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
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.
Severe ocular phenotypes in Rbp4-deficient mice in the C57BL/6 genetic background
PMID: 26974396
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.
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).
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
The D' domain of von Willebrand factor requires the presence of the D3 domain for optimal factor VIII binding
PMID: 30111575
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
Two vitellogenins in the loliginid squid Uroteuthis edulis: Identification and specific expression in ovarian follicles
PMID: 28218427
Gene: VWF
HGNCID: 12726
Limitations of the Ristocetin Cofactor Assay in Measurement of VWF Function
PMID: 19694940
Gene: VWF
HGNC: 12726
Current and Emerging Options for the Management of Inherited von Willebrand Disease
PMID: 28791655
Gene: VWF
HGNCID: 12726
Controversies in the diagnosis of Type 1 von Willebrand disease
PMID: 28447419
Gene: VWF
HGNCID: 12726
Abnormal angiogenesis in blood outgrowth endothelial cells derived from von Willebrand disease patients
PMID: 28362648
Gene: VWF
HGNCID: 12726
Type 2B von Willebrand Disease: An Unusual Cause of Severe Neonatal Thrombocytopenia
PMID: 28060120
Gene: VWF
HGNCID: 12726
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
Von Willebrand's disease: case report and review of literature
PMID: 28904675
Gene: VWF
HGNCID: 12726
Combined effects of two mutations in von Willebrand disease 2M phenotype
PMID: 30046717
Gene: von Willebrand Factor (VWF)
Two cases of von Willebrand disease type 3 in consanguineousChinese families
PMID: 31793247
Gene: VMF
HGNCID: HGNC:12726
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
A case of autoimmune severe acquired von Willebrand syndrome (type 3-like)
PMID: 28512017
Gene: VWF
HGNCID: 12726
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
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.
Pregnancy loss in women with von Willebrand disease : a single-center pilot study
PMID: 28151804
Gene: VWF
HGNCID: 12726
A prospective diagnostic accuracy study evaluating rotational thromboelastometry and thromboelastography in 100 patients with von Willebrand disease
PMID: 27785858
Gene: VWF
HGNCID: 12726
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).
Gene cloning and difference analysis of vitellogenin in Neoseiulus barkeri (Hughes)
PMID: 28693644
Gene: VWF
HGNCID: 12726
Clinical and Laboratory Phenotype Variability in Type 2M Von Willebrand Disease
PMID: 28544236
Gene VWF
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
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
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
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
Contractile abnormalities and altered drug response in engineered heart tissue from Mybpc3-targeted knock-in mice
PMID: 23896226
Gene: MYH7
HGNC: 7577
"Myosin-binding protein C (Mybpc3)-targeted knock-in mice (KI) recapitulate typical aspects of human hypertrophic cardiomyopathy. We evaluated whether these functional alterations can be reproduced in engineered heart tissue (EHT) and yield novel mechanistic information on the function of cMyBP-C."
Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing
PMID: 32481709
Gene: MYH7
HGNC: 7577
Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy
PMID: 23494605
Gene: TNNT2
HGNC ID: 11949
Phenotypes of hypertrophic cardiomyopathy: genetics, clinics, and modular imaging
PMCID: 32040801
Gene: MYH7
HGNC: 7577
"The purpose of this article is to summarize current data regarding all HCM phenotypes, from genetics to pathogenesis, clinical manifestations, diagnosis, and treatment."
MicroRNA-214 provokes cardiac hypertrophy via repression of EZH2
PMID: 23727574
Gene: MYH7
HGNC: 7577
Poor Prognosis of Rare Sarcomeric Gene Variants in Patients with Dilated Cardiomyopathy
PMID: 24119082
Gene: MYH7
HGNC: 7577
24 rare variants (3 in MYH6, 3 in MYH7, 3 in MYBPC3, 2 in TNNT2, and 13 in TTN) affecting 52 subjects in 25 families:
MYH7 (c.2945 T>C, p.M982T; c.4300 C>T, p.R1434C; c.4498 C>T, p.R1500W)
Trip12, a HECT domain E3 ubiquitin ligase, targets Sox6 for proteasomal degradation and affects fiber type-specific gene expression in muscle cells
PMID: 23663701
Gene: MYH7
HGNC: 7577
A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
PMID: 28491642
Gene: ACTC1
HGNC ID 143
A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias PMID: 28491642
Gene: ACTC1
HGNC ID: 143
A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
PMID: 28491642
Gene: ACTC1
HGNC ID: 143
Deep basal inferoseptal crypts occur more commonly in patients with hypertrophic cardiomyopathy due to disease-causing myofilament mutations
PMID: 23771913
Gene: MYH7
HGNC: 7577
"Deep basal inferoseptal crypts occur more commonly in patients with HCM with disease-causing mutations than in those with genotype-negative HCM."
Advanced Single-Cell Mapping Reveals that in hESC Cardiomyocytes Contraction Kinetics and Action Potential Are Independent of Myosin Isoform
PMID: 32302556
Gene: MYH7
HGNC: 7577
This study concludes that "in hESC-CMs the expression of genes associated with electrical activity, contraction, calcium handling, and MyHCs is independently regulated."
Fetal Dilated Cardiomyopathy Associated With Variants of Uncertain Significance in MYH7 and DSG2 Genes: A Case Report and Review of the Literature
PMID: 32171501
Gene: MYH7, DSG2
HGNC: 7577, 3049
Perturbed Length–Dependent Activation in Human Hypertrophic Cardiomyopathy With Missense Sarcomeric Gene Mutations
PMID: 23508784
Gene: MYH7
HGNC: 7577
DNA Sequence Capture and Next-Generation Sequencing for the Molecular Diagnosis of Genetic Cardiomyopathies
PMID: 24183960
Gene: MYH7
HGNC: 7577
Ebstein anomaly associated with left ventricular noncompaction: An autosomal dominant condition that can be caused by mutations in MYH7
PMID: 23794396
Gene: MYH7
HGNC: 7577
Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor function
PMID: 23798412
Gene: MYH7
HGNC: 7577
Modeling CNS Involvement in Pompe Disease Using Neural Stem Cells Generated from Patient-Derived Induced Pluripotent Stem Cells
PMID: PMC7822217
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
Clinical laboratory experience of blood CRIM testing in infantile Pompe disease
PMID: 26693141
Gene: GAA
Novel GAA mutations in patients with Pompe disease
PMID: 25681614
Gene: GAA
Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease—an MRI study
PMID: 33996274
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
A Leu117rTrp Mutation Within the RGD-Peptide Cross-Linking Region ofb3 Results in Glanzmann Thrombasthenia by PreventingaIIbb3 Export tothe Platelet Surface
PMID: 9376589
Gene: ITGB3
HGNC: 6156
A Novel Leukocyte Adhesion Deficiency III Variant:Kindlin-3 Deficiency Results in Integrin- andNonintegrin-Related Defects in Different Steps of LeukocyteAdhesion
PMID: 21441448
Gene: ITGA2B
HGNC: 6138
Therapeutic expression of the platelet-specific integrin, αIIbβ3, in a murine model for Glanzmann thrombasthenia
PMID:* 15972454
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
Note: This article investigated the practicality of gene therapy for correcting molecular defects in platelets, and targeted expression of the human integrin β3-subunit in megakaryocytes of β3–/– mice affected with GT. Although, this does not apply to the Platelet Disorder VCEP functional criteria, this could be useful experimental assay information as this deals with mouse models
A variant thrombasthenic phenotype associated with compound heterozygosity of integrinβ3-subunit:(Met124Val)β3 alters the subunit dimerization rendering adecreased number of constitutive active αIIbβ3 receptors
PMID: 15583747
Gene: ITGB3
HGNC: 6156
Low Concentrations of Recombinant Factor VIIaMay Improve the Impaired Thrombin Generationof Glanzmann Thrombasthenia Patients
PMID: 30597506
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
Interesting variations on how a disease is defined: comparisonsof von Willebrand disease and Glanzmann thrombasthenia
PMID: 17166245
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
Recognition and management of platelet-refractory bleeding in patients with Glanzmann’s thrombasthenia and other severe platelet function disorders
PMID: 28435309
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article reviews the rFVIIa clinical data in patients with GT and platelet refractoriness and discusses clinical implications relevant to the hospital-based physician. This article does not mention probands with variants in ITGA2B or ITGB3
Bilateral linkage between a new deletion polymorphism in intron 21 of the GP IIb gene and the HPA-3b (Bakb) determinant
PMID: 8555087
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions a variant in ITGA2B; however, there are no specific case reports in this article, rather a large cohort that was tested
Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression
PMID: 28232155
Gene: ITGA2B
HGNC: 6138
In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia.
PMID: 29385657
Gene: ITGA2B
HGNC: 6138
See Page Notes for Supplemental Proband Data
Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients M. FIORE Centre de Référence des Pathologies Plaquettaires (CRPP), Plateforme Technologique d’Innovation Biomédicale, Hôpital Xavier Arnozan, PessacSearch for more papers by this author N. FIRAH Hôpital des Enfants ‐ Hôpital Pellegrin – CHU Bordeaux, Unité d’Hématologie Pédiatrique, BordeauxSearch for more papers by this author X. PILLOIS Centre de Référence des Pathologies Plaquettaires (CRPP), Plateforme Technologique d’Innovation Biomédicale, Hôpital Xavier Arnozan, PessacSearch for more papers by this author P. NURDEN Centre de Référence des Pathologies Plaquettaires (CRPP), Plateforme Technologique d’Innovation Biomédicale, Hôpital Xavier Arnozan, PessacSearch for more papers by this author R. HEILIG Genoscope, Centre National de Séquençage, 91000, Evry, FranceSearch for more papers by this author A. T. NURDEN Centre de Référence des Pathologies Plaquettaires (CRPP), Plateforme Technologique d’Innovation Biomédicale, Hôpital Xavier Arnozan, PessacSearch for more papers by this author
PMID: 22250950
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
The platelet fibrinogen receptor: from megakaryocyte to the mortuary
PMID: 24175064
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a variant; however, not in a human.
Nutritional Zinc Increases Platelet Reactivity
PMID: 1951315
Gene: ITGA2B and ITBG3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence
Association of thrombospondin-1 with the actin cytoskeleton of humanthrombin-activated platelets through anaIIbb3- or CD36-independentmechanism
PMID: 11964147
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient who was studied; however, the patient did not have variants in ITGA2B and/or ITGB3 mentioned in this article, therefore there is insufficient evidence
Real-Time Analysis of Mural Thrombus Formation in Various Platelet Aggregation Disorders: Distinct Shear-Dependent Roles of Platelet Receptors and Adhesive Proteins Under Flow
PMID: 10419888
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 3Glanzmann thrombasthenia patients; however, there is no mention of variants in ITGA2B and/or ITGB3 within these patients; therefore, there is insufficient evidence. In the present study, they observed the real-time process of mural thrombogenesis on a type 1 collagen coated surface under flow conditions with various shear rates in the blood of patients with major congenital platelet aggregation disorders
Congenital platelet disorders and understanding of plateletfunction
PMID: 24286193
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and ITGB3; however, there are no probands with these variants mentioned in this article. Article mentions, "Due to space restrictions, single case reports have mostly been omitted, as have many historical reports with no recent update"
PMID: 7492773
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention a GT case report with variants in ITGA2B and/or ITGB3; therefore, there is no evidence. This article has studied the role of vWF in the interaction of platelets with fibrin under flow conditions.
Levonorgestrel-releasing intrauterine system for treatment of heavy menstrual bleeding in adolescents with Glanzmann’s Thrombasthenia: illustrated case series
PMID: 29486748
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: There are two probands in this article with Glanzmann thrombasthenia; however, no mention of variants in these two patients and no mention of ITGA2B or ITBG3 genes
Glanzmann's Thrombasthenia
PMID: 11450390
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions two probands with Glanzmann thrombasthenia; however, no variants in ITGA2B and/or ITGB3 are mentioned in these probands therefore we have insufficient evidence
Protein A Sepharose immunoadsorption can restore the efficacy of platelet concentrates in patients with Glanzmann's thrombasthenia and anti‐glycoprotein IIb–IIIa antibodies Isabelle Martin Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Fayçal Kriaa Service de Néphrologie, CHU Kremlin Bicêtre, Assistance Publique‐Hôpitaux de Paris and Faculté de Médecine Paris XI, Le Kremlin‐Bicêtre,Search for more papers by this author Valérie Proulle Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Benoît Guillet Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Cécile Kaplan Laboratoire d'Immunologie Plaquettaire, INTS,Search for more papers by this author Roseline D'Oiron Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Marianne Debré Unité d'Hématologie et d'Immunologie Pédiatrique, Hôpital Necker‐Enfants Malades, Paris, andSearch for more papers by this author Edith Fressinaud Laboratoire d'Hématologie, Centre Hospitalier Régional de Nantes, FranceSearch for more papers by this author Yyes Laurian Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Gil Tchernia Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Bernard Charpentier Service de Néphrologie, CHU Kremlin Bicêtre, Assistance Publique‐Hôpitaux de Paris and Faculté de Médecine Paris XI, Le Kremlin‐Bicêtre,Search for more papers by this author Thierry Lambert Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author Marie Dreyfus Laboratoire d'Hématologie, Centre de Traitement de l'Hémophilie andSearch for more papers by this author
PMID: 12472579
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT probands; however, there is no mention of these patients harboring variants in ITGA2B and/or ITGB3; therefore, we have insufficient evidence
ADeletionintheGeneforGlycoproteinlibAssociatedwithGlanzmann'sThrombasthenia
PMID: 1702098
Gene: ITGA2B
HGNC: 6156
Molecular Diversity of Glanzmann Thrombastheniain Southern India: New Insights Into mRNASplicing and Structure–Function CorrelationsofaIIbb3 Integrin (ITGA2B, ITGB3)
PMID: 16463284
Gene: ITGA2B and ITGB3
HGNC: 6156 and 6156
Truncation of the Cytoplasmic Domain of b3 in a Variant Form of Glanzmann Thrombasthenia Abrogates Signaling through the Integrin aIIbb3 Complex
PMID: 9351872
Gene: ITGB3
HGNC: 6156
GT5
Disease: Glazmann's Thrombasthenia
Case: 48 year old female French Gypsy
CasePresentingHPOs: HP:0001975
(Decreased platelet glycoprotein IIb-IIIa)
GenotypingMethod:Genotyping analysis of the HPA-1 system by high resolution melting analysis (methods not provided, cited article I don't have access too)
ClinVar: 2895
CAID: CA10575473
Variant: NM_000419.5:c.1544+1G>A
GnomAD: Not found
ExpressionEvidence: Failed to express αIIbβ3 integrin on their platelet surface (methods not provided cited article no access too)
AnInheritedBleedingDisorderLinkedtoaDefectiveInteractionbetweenADPandItsReceptoronPlatelets
PMID: 7706468
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
Red blood cell transfusion in patients with type 1 Glanzmann’sthrombasthenia
PMID: 16194208
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT; however, there is no mention of variants in ITGA2B and/or ITGB3, therefore we have insufficient evidence
Alloimmunization in Congenital Deficiencies of Platelet Surface Glycoproteins: Focus on Glanzmann's Thrombasthenia and Bernard–Soulier's Syndrome
PMID: 29879742
Gene:ITGA2B
HGNC: 6138
InsufficientEvidence Variant IVS15(+1)G > A mutation in ITGA2B is mentioned in this article; however, no proband to tie variant to therefore we have insufficient evidence
Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high- resolution melting analysis
PMID: 20886184
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: Variant mentioned here; however, specific proband information is not provided here, probands are clumped together in cohort
Three novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia
PMID: 17488698
Gene: ITGA2B
HGNC: 6138
Identification of the integrinb3 L718P mutation in a pedigreewith autosomal dominant thrombocytopenia with anisocytosis
PMID: 23253071
Gene: ITGB3
HGNC: 6156
Triplejeopardy:AcaseofGlanzmann'sthrombastheniawithanti-GPIIb-IIIaantibodiesandHPAincompatibilityresultinginstillbirth
PMID: 31404847
Gene: ITGA2B
HGNC: 6138
Perioperative Management of a Heterozygous Carrier of Glanzmann’s Thrombasthenia Submitted to Coronary Artery Bypass Grafting With Cardiopulmonary Bypass
PMID: 16861409
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence