Hereditary neuropathy
Gene: VWA1

VWA1 (von Willebrand factor A domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000179403
EnsemblGeneIds (GRCh37): ENSG00000179403
OMIM: 611901, Gene2Phenotype
VWA1 is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least five variants reported in numerous unrelated cases (PMID 33559681; 33459760). Supportive Zebra fish morpholino studies have also been presented (PMID 33559681; 33015062).
Created: 12 Aug 2021, 2:11 p.m. | Last Modified: 12 Aug 2021, 2:11 p.m.

Panel Version: 1.395

Created: 12 Aug 2021, 2:11 p.m.
Last Modified: 12 Aug 2021, 2:11 p.m.
Panel version: 1.395

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Bialleleic mutations in 6 unrelated families with a common phenotype
Sources: Expert list
Created: 8 Mar 2021, 10:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hereditary motor neuropathy

Publications

PMID: 33459760

Mode of pathogenicity
Other

Created: 8 Mar 2021, 10:49 a.m.

Panel version: 1.383

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Neuropathy, hereditary motor, with myopathic features OMIM:619216
neuropathy, hereditary motor, with myopathic features MONDO:0030977

OMIM

611901

Clinvar variants

Variants in VWA1

Penetrance

Complete

Publications

Mode of Pathogenicity

Other

Panels with this gene