Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

Inherited bleeding disorders
Gene: VWF

VWF (von Willebrand factor)
EnsemblGeneIds (GRCh38): ENSG00000110799
EnsemblGeneIds (GRCh37): ENSG00000110799
OMIM: 613160, Gene2Phenotype
VWF is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
von Willebrand factor type 1; von Willebrand factor type 2A; von Willebrand factor type 2B; von Willebrand factor type 2M; von Willebrand factor type 2N; von Willebrand factor type 3

Created: 19 Dec 2016, 11:31 a.m.

Panel version: 0.18

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
von Willebrand factor type 1; von Willebrand factor type 2A; von Willebrand factor type 2B; von Willebrand factor type 2M; von Willebrand factor type 2N; von Willebrand factor type 3

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Dec 2016, 11:18 a.m.

Panel version: 0.17

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
BRIDGE Study Tier 1 Gene

Phenotypes

von Willebrand factordisorders
von Willebrand factor type 1
von Willebrand factor type 2A
von Willebrand factor type 2B
von Willebrand factor type 2M
von Willebrand factor type 2N
von Willebrand factor type 3

OMIM

613160

Clinvar variants

Variants in VWF

Penetrance

Complete

Panels with this gene

History Filter Activity

28 Mar 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for VWF was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Louise Daugherty (Genomics England Curator)

VWF was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene VWF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

VWF was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene