Case UZ036: 13 year old female

DiseaseAssertion: type 1 VWD

FamilyInfo:

ParentalGenotype(s):

CasePresentingHPOs: HP:0032370

CaseHPOFreeRext: vWF:Ag (%) = 6.5; vWF:GPIbR (%) = 4.6; Act/Ag ratio = 0.71; FVIII:C (%) = 28.6; Platelets (x10^9/L) = 258

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.8008G>A p.Gly2670Ser

HGVS:

ClinVarID: 1703812

CAID:

gnomAD: 0.000005576 (9 in 1614024) no homozygotes https://gnomad.broadinstitute.org/variant/12-5952498-C-T?dataset=gnomad_r4

MultpleGeneVariants:

Gene: FGG

Variant: c.503C>T p.Thr168Met

ClinVarID: 1703849

gnomAD: 0.00003719 (60 in 1613552) no homozygotes https://gnomad.broadinstitute.org/variant/4-154610096-G-A?dataset=gnomad_r4