Research panel - Severe Paediatric Disorders
Gene: VWF

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)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: VWF; Recommended initial gene rating: Green List (high evidence); Phenotypes: von Willebrand disease, type 1, 193400 (3) | von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3) | von Willibrand disease, type 3, 277480 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive, Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:27 p.m.
Last Modified: 20 Feb 2020, 5:27 p.m.
Panel version: 0.12

Details

Mode of Inheritance

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

OMIM

613160

Clinvar variants

Variants in VWF

Penetrance

None

Publications

30847515

Panels with this gene