Case: T3-1, female, 21yo

DiseaseAssertion: VWD3

FamilyInfo:

ParentalGenotype(s):

CasePresentingHPOs:

CaseHPOFreeText: Blood type: O+, bleeding score = 24, VWF:Ag (IU/mL) = 0.01; VWF:RCo (IU/mL) = 0.00; FVIII:C (IU/mL) = 0.01

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting:

GenotypingMethod: qRT-PCR

PreviouslyPublished:

Gene: VWF

Variant 1: c.876delC (p.Pro293Glnfs*164)

HGVS: n/a

ClinVarID: n/a

CAID: n/a

gnomAD: n/a

Variant 2: c.1255C>T (p.Gln419Ter)

HGVS: NM_000552.5:c.1255C>T (p.Gln419Ter)

ClinVarID: n/a

CAID: CA232314778; https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA232314778

gnomAD: absent

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