Case: Case 1, female, newborn

DiseaseAssertion: VWD2B

FamilyInfo: second child of couple without family history of bleeding, Detection of maternal alloantibodies against HPA antigens present on paternal platelets showed weak cross reactivity, Analysis of platelet genotype for HPA-1, 2, 3, 5, and HPA-15 alleles by PCR-SSP performed in both parents, showed a possible incompatibility in HPA-1b and HPA-5b, No maternal anti-HPA antibody was detected using monoclonal antibody-specific immobilization of platelet antigen method directed against HPA-1, 3, 4, HPA-2, and HPA-5 antigens

ParentalGenotype(s): variant absent in both parents

CasePresentingHPOs: HP:0000967, HP:0001873, HP:0030129

(petechia, thrombocytopenia, impaired ristocetin cofactor assay activity)

CaseHPOFreeText: Delivered at 40wks, VWF:RCo = 8 IU dL−1, VWF:Ag = 105 IU dL−1, VWF:RCo/VWF:Ag < 0.1, FVIII:C = 94 IU dL−1, RIPA not tested due to low platelet count

CaseNOTHPOs: HP:0032169

(infection)

CaseNOTHPOFreeText: DIC, spontaneous bleeding

CasePreviousTesting: NA

GenotypingMethod: sequencing of the whole exon 28 of VWF gene

PreviouslyPublished: NA

Gene: VWF

Variant: c.4379T>C (Leu1460Pro)

HGVS: NM_000552.3:c.4379T>C (Leu1460Pro)

ClinVarID: NA

CAID: CA383502290; http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA383502290

gnomAD: absent