VWF

von Willebrand factor
OMIM: 613160, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green VWF in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.182

review 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
Green VWF in Bleeding and platelet disorders


Level 2: Haematology
Version 4.6
Latest signed off version: v4.0 (30 Apr 2025)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • 613554 von Willebrand disease, types 2A, 2B, 2M, and 2N
  • 277480 von Willibrand disease, type 3
  • 193400 von Willebrand disease, type 1
Red VWF in Cytopenia - NOT Fanconi anaemia


Level 2: Haematology
Version 4.32
Latest signed off version: v4.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert review Red
  • NHS GMS
  • North West GLH
  • London South GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
Phenotypes
  • von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554
  • von Willibrand disease, type 3, 277480
  • von Willebrand disease, type 1, 193400
Green VWF in von Willebrand disease


Level 2: Haematology
Version 1.4
Latest signed off version: v1.0 (14 Sep 2023)

review 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