Case UZ075: 2 year old female (row 76 supplemental table)

DiseaseAssertion: type 1 VWD

FamilyInfo:

ParentalGenotype(s):

CasePresentingHPOs:

CaseHPOFreeRext: vWF:Ag (%) = 27; vWF:GPIbR (%) = 25.5; Act/Ag ratio = 0.94; FVIII:C (%) = 94.6; Platelets (x10^9/L) = 317

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: The Thrombosis-Hemostasis gene panel test used whole exome sequencing and included 99 diagnostic-grade genes (table 1 in PMID:36696193)

GenotypingMethod: WES using the coagulation subpanel of the UZ Leuven Thrombosis-Haemostasis gene panel test. WES was performed on the sequencing platform NovaSeq 6000 (Illumina), and Alissa Interpret software v5.2-5.4 (Agilent) was used for variant interpretation. Assessment of copy number variation was validated within the bioinformatics pipeline. The American College of Medical Genetics and Genomics and the Association of Molecular Pathology guidelines were used to classify variants as pathogenic (P), likely pathogenic (LP), a variant of uncertain significance (VUS), or (likely) benign (LB, B) variants

PreviouslyPublished:

Gene: VWF

Variant: c.6551G>A p.Cys2184Tyr

HGVS:

ClinVarID: 1677275

CAID:

gnomAD: 0.000001239 (2 in 1613988) no homozygotes https://gnomad.broadinstitute.org/variant/12-5993909-C-T?dataset=gnomad_r4

MultipleGeneVariants:

Gene: F5:Leiden

Variant: c.1601G>A p.Arg534Gln

ClinVarID: 642

gonmAD: 0.02143 (34574 in 1613166) 450 homozygotes https://gnomad.broadinstitute.org/variant/1-169549811-C-T?dataset=gnomad_r4

Case UZ050: 3 year old male (row 51 supplemental table)

DiseaseAssertion: type 1 VWD

FamilyInfo:

ParentalGenotype(s):

CasePresentingHPOs: HP:0032370

CaseHPOFreeRext: vWF:Ag (%) = 29.6; vWF:GPIbR (%) = 26; Act/Ag ratio = 0.88; FVIII:C (%) = 78

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting: The Thrombosis-Hemostasis gene panel test used whole exome sequencing and included 99 diagnostic-grade genes (table 1 in PMID:36696193)

GenotypingMethod: WES using the coagulation subpanel of the UZ Leuven Thrombosis-Haemostasis gene panel test. WES was performed on the sequencing platform NovaSeq 6000 (Illumina), and Alissa Interpret software v5.2-5.4 (Agilent) was used for variant interpretation. Assessment of copy number variation was validated within the bioinformatics pipeline. The American College of Medical Genetics and Genomics and the Association of Molecular Pathology guidelines were used to classify variants as pathogenic (P), likely pathogenic (LP), a variant of uncertain significance (VUS), or (likely) benign (LB, B) variants

PreviouslyPublished:

Gene: VWF

Variant: c.6551G>A p.Cys2184Tyr

HGVS:

ClinVarID: 1677275

CAID:

gnomAD: 0.000001239 (2 in1613988) no homozygotes https://gnomad.broadinstitute.org/variant/12-5993909-C-T?dataset=gnomad_r4