Case: Patient 1, female, 6.3yo

DiseaseAssertion: VWD2A

FamilyInfo: NA

ParentalGenotype(s): NA

CasePresentingHPOs: HP:0012147, HP:0030129, HP:0030130, HP:0030132

(Reduced quantity of VWF, impaired ristocetin cofactor assay activity, Impaired von Willebrand factor collagen binding activity, Absence of large von Willebrand factor multimers)

CaseHPOFreeText: VWF:Ag = 22%, undetectable VWF:RCo and VWF:CB; Platelets (*109/L) = 194, Mean Platelet Volume (fL) = 11.6, FVIII:C (\%) = 23, VWF:CB (\%) <5, VWF:RCo (\%) = <5, aPTT (sec) = 47.6, PT (\%) = 94

CaseNOTHPOs: HP:0001873

(Thrombocytopenia)

CaseNOTHPOFreeText:

CasePreviousTesting: NA

GenotypingMethod: sequencing of exon 28 of the VWF

PreviouslyPublished: NA

Gene: VWF

Variant: c.3816C>G (p.Cys1272Trp)

HGVS: NM_000552.3:c.3816C>G (p.Cys1272Trp)

ClinVarID: NA

CAID: CA383506988; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383506988

gnomAD: absent