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von Willebrand disease

Gene: VWF

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #193400, #277480 & #613554) and the OMIM records were last accessed on 29 December 2025.
Created: 29 Dec 2025, 2:21 p.m. | Last Modified: 29 Dec 2025, 2:21 p.m.
Panel Version: 1.2
VWF has been added to the panel for R121 von Willebrand disease with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 5:06 p.m. | Last Modified: 30 Jun 2023, 5:06 p.m.
Panel Version: 0.1

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

Created: 30 Jun 2023, 5:06 p.m.
Last Modified: 30 Jun 2023, 5:06 p.m.
Panel version: 0.1

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • von Willebrand disease, type 1, OMIM:193400
  • von Willebrand disease, type 3, OMIM:277480
  • von Willebrand disease, types 2A, 2B, 2M, and 2N, OMIM:613554
  • von Willebrand disease 1, MONDO:0008668
  • von Willebrand disease 2, MONDO:0013304
  • von Willebrand disease 3, MONDO:0010191
OMIM
613160
Clinvar variants
Variants in VWF
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: VWF were changed from von Willebrand disease, type 1, OMIM:193400; von Willebrand disease, type 3, OMIM:277480; von Willebrand disease, types 2A, 2B, 2M, and 2N, OMIM:613554; von Willebrand disease 1, MONDO:0008668; von Willebrand disease 2, MONDO:001330; von Willebrand disease 3, MONDO:0010191 to von Willebrand disease, type 1, OMIM:193400; von Willebrand disease, type 3, OMIM:277480; von Willebrand disease, types 2A, 2B, 2M, and 2N, OMIM:613554; von Willebrand disease 1, MONDO:0008668; von Willebrand disease 2, MONDO:0013304; von Willebrand disease 3, MONDO:0010191

29 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: VWF were changed from to von Willebrand disease, type 1, OMIM:193400; von Willebrand disease, type 3, OMIM:277480; von Willebrand disease, types 2A, 2B, 2M, and 2N, OMIM:613554; von Willebrand disease 1, MONDO:0008668; von Willebrand disease 2, MONDO:001330; von Willebrand disease 3, MONDO:0010191

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: VWF was added gene: VWF was added to von Willebrand disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: VWF was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal