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  2. Cytopenia - NOT Fanconi anaemia
  3. VWF
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Cytopenia - NOT Fanconi anaemia

Gene: VWF

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

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: von Willebrand disease; North West GLH: VWD subtypes; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.
Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Created: 4 Nov 2019, 7:30 p.m.
Last Modified: 4 Nov 2019, 7:30 p.m.
Panel version: 0.135

Details

Mode of Inheritance
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
OMIM
613160
Clinvar variants
Variants in VWF
Penetrance
None
Panels with this gene

History Filter Activity

4 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to VWF.

4 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert review Red was added to VWF.

4 Nov 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene VWF was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554; von Willibrand disease, type 3, 277480; von Willebrand disease, type 1, 193400 for gene: VWF

4 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: VWF was added gene: VWF was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: VWF was set to