Gene:VWF

HGNCID:12726

Case:Preterm female newborn delivered by C/S

DiseaseAssertion:VWD Type 2B

FamilyInfo:Fig. 1 Father with VWD 2B and two paternal half-brothers diagnosed with hematomas after birth

ParentalGenotype(s):heterozygous carrier p.(Val1316Met) confirmed in the father, half-brothers were not tested

CasePresentingHPOs: HP:0001873, HP:0012147

CaseHPOFreeRext:Multiple hematomas, no cerebral hemorrhage

CaseNOTHPOs:HP:0030130

CaseNOTHPOFreeText:analyses showed reduced VWF activity levels (40% at postnatal day 7), whereas VWF antigen was normal (146% at postnatal day 7)

CasePreviousTesting:No . Gene:VWF

Variant:p.Val1316Met

HGVS:NM_000552.4:c.3946G>A

ClinVarID:290

CAID:CA114127

gnomAD:6.20e-7

Case: 2B, male, 55yo

DiseaseAssertion: VWD2B

FamilyInfo:

ParentalGenotype(s):

CasePresentingHPOs:

CaseHPOFreeText: Blood type: O+, bleeding score = 17, VWF:Ag (IU/mL) = 0.40; VWF:RCo (IU/mL) = 0.13; FVIII:C (IU/mL) = 0.46

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting:

GenotypingMethod: qRT-PCR

PreviouslyPublished:

Gene: VWF

Variant: c.3946G>A (p.Val1316Met)

HGVS: NM_000552.5(VWF):c.3946G>A (p.Val1316Met)

ClinVarID: 290; https://www.ncbi.nlm.nih.gov/clinvar/variation/290/?new_evidence=false

CAID:

gnomAD: absent