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 1.159

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


Version 1.26
Latest signed off version: v1.2 (3 Mar 2020)

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


Version 1.37
Latest signed off version: v1.29 (15 Oct 2020)

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 Severe Paediatric Disorders


Version 1.77

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • von Willibrand disease, type 3, 277480
  • von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554
  • von Willebrand disease, type 1, 193400