Case 20: 3 year old male, study ID UZ067 in supplemental table

DiseaseAssertion: low VWF

FamilyInfo:

ParentalGenotype(s):

CasePresentingHPOs: HP:0032442

CaseHPOFreeRext: vWF:Ag (%) = 49; vWF:GPIbR (%) = 50.5; Act/Ag ratio = 1.03; FVIII:C (%) = 90.3; Platelets (x10^9/L) = 336

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.7287+12T>G p.?

HGVS:

ClinVarID: 2572109

CAID:

gnomAD: 0.000002479 (4 in 1613878) no homozygotes https://gnomad.broadinstitute.org/variant/12-5981774-A-C?dataset=gnomad_r4