Hypothesis

von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention

Case: VWD cohort index patients (IPs)

DiseaseAssertion: congenital bleeding disorder

FamilyInfo: Six index patients (IPs), from VWD cohort of patients of Germany and Pakistan

ParentalGenotype(s):

CasePresentingHPOs: HP:0000006

CaseHPOFreeText: IP1 (VWF:Ag (IU/dl)=12), IP2 (WF:Ag (IU/dl)=1), IP3 (VWF:Ag (IU/dl)=29), IP4 (VWF:Ag (IU/dl)= 1), IP5 (VWF:Ag (IU/dl)=35), IP6 (VWF:Ag (IU/dl)= 1)

CaseNOTHPOs:

CaseNOTHPOFreeText:

CasePreviousTesting:

GenotypingMethod: Not provided

PreviouslyPublished:

Gene: VWF

Variant: IP1 c.164G>A (p.Gly55Glu), IP2 c.4019T>G, c.257T>A (p.Leu1340Arg , p.Val86Glu), IP3 c.571T>C (p.Trp191Arg), IP4 c.3797C>T, c.631A>G (p.Pro1266Leu, p.Asn211Asp) , IP5 c.3931C>T, c.1001G>A (p.Gln1311X,p.Gly334Glu) , IP6 c.2561G>A, c.1824C>G (p.Arg854Gln , p.Cys608Trp)

HGVS: NM_000552.4 and NP_000543.2

ClinVarID:https://www.ncbi.nlm.nih.gov/clinvar/?term=VWF%5Bgene%5D&redir=gene

CAID: 00311186–00311190

gnomAD:n/a

CaseInfo Gene: VWF Mutation: Missense HGVS: NM_000552.4 DiseaseAssertion: Congenital bleeding disorder inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF

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