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Bleeding and Platelet Disorders

Gene: VWF

Green List (high evidence)
VWF (von Willebrand factor)
EnsemblGeneIds (GRCh38): ENSG00000110799
EnsemblGeneIds (GRCh37): ENSG00000110799
OMIM: 613160, Gene2Phenotype
VWF is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 19 Mar 2022, 2:07 a.m. | Last Modified: 19 Mar 2022, 2:07 a.m.
Panel Version: 0.11588

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
von Willebrand disease, type 1, MIM# 193400; von Willebrand disease, type 3 , MIM#277480; von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM# 613554

Created: 19 Mar 2022, 2:07 a.m.
Last Modified: 19 Mar 2022, 2:07 a.m.
Panel version: Imported from Mendeliome panel version 0.11588

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

Loss of function variants have been reported in both dominant and recessive forms of disease (PMID:12588351 , PMID:16643449). VWD type 3 (AR) usually associated with null alleles, VWD type 1 (AD) is usually due to partial deficiency (PMID:19372260).
Dominant negative have been reported for missense variant (PMID:11698279).
Created: 10 Jan 2020, 4:37 a.m. | Last Modified: 10 Jan 2020, 4:37 a.m.
Panel Version: 0.0

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
von Willebrand disease, type 1, MIM#193400; von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM#613554; von Willibrand disease, type 3, MIM#277480

Mode of pathogenicity
Other

Created: 10 Jan 2020, 4:37 a.m.
Last Modified: 10 Jan 2020, 4:37 a.m.
Panel version: 0.0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • von Willebrand disease, type 1, MIM#193400
  • von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM#613554
  • von Willibrand disease, type 3, MIM#277480
OMIM
613160
Clinvar variants
Variants in VWF
Penetrance
None
Panels with this gene

History Filter Activity

10 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vwf has been classified as Green List (High Evidence).

10 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: VWF were changed from to von Willebrand disease, type 1, MIM#193400; von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM#613554; von Willibrand disease, type 3, MIM#277480

10 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: VWF was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VWF was added gene: VWF was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VWF was set to Unknown