Gene: VWF

HGNCID: 12726

Case: 4 month old female

DiseaseAssertion: VWD type 3

FamilyInfo: both parents were sequenced ParentalGenotype(s): mother is VWF:c.2435delC carrier, father was negative

CasePresentingHPOs: HP:0011889 CaseHPOFreeRext: bleeding from injection site following vaccination administration CaseNOTHPOs: CaseNOTHPOFreeText: normal PT/PTT at 4 months. prolonged PTT, normal PT and platelet count upon repeat. Factor VIII levels <1%, VWF activity <15%

GenotypingMethod: unknown

Gene: VWF

Variant: c.2435delC in VWF gene, deletion in exon 6 of VWF gene

HGVS: NM_000552.5:c.2435del

ClinVarID: 303

gnomAD: 0.00007187 (116/1613916) https://gnomad.broadinstitute.org/variant/12-6044297-CG-C?dataset=gnomad_r4

PMID: unknown

Gene: VWF

HGNCID: 12726

Case: 2 year old female

DiseaseAssertion: type 3 VWD

FamilyInfo: 27 year old parents with no history of abnormal bleeding, non-consanguineous. Older brother (4 years old) with symptoms, younger brother asymptomatic.

ParentalGenotype(s): Mother is heterozygous for c.2345del variant. Father is heterozygous for exon 6 deletion.

CasePresentingHPOs: HP:0001934, HP:0000978, HP:0000225, HP:0001058, HP:0001058, HP:0012147, HP:0030132

CaseHPOFreeRext: reduced VWF activity

CaseNOTHPOs: HP:0001873, HP:0008151

CaseNOTHPOFreeText: reduced factor VIII

CasePreviousTesting: n/a

GenotypingMethod: unknown

PreviouslyPublished: n/a

Gene: VWF

Variant: compound heterozygous c2345delC in exon 18 and deletion in exon 6

HGVS: NM_000552.5:c.2435del p. (Pro812ArgfsTer31)

ClinVarID: 303

CAID:

gnomAD: 0.00007187 (11/1613916 alleles) https://gnomad.broadinstitute.org/variant/12-6044297-CG-C?dataset=gnomad_r4