Ataxia - adult onset
Gene: VWA3B

VWA3B (von Willebrand factor A domain containing 3B)
EnsemblGeneIds (GRCh38): ENSG00000168658
EnsemblGeneIds (GRCh37): ENSG00000168658
OMIM: 614884, Gene2Phenotype
VWA3B is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A homozygous missense variant was identified in 3 brothers from a single consanguineous Japanese family with autosomal recessive cerebellar ataxia. Transfection of the mutant VWA3B protein into several different cultured cell lines resulted in decreased cell viability.
Created: 17 Apr 2020, 4:49 a.m. | Last Modified: 17 Apr 2020, 4:49 a.m.

Panel Version: 0.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 22 MIM#616948

Publications

26157035

Created: 17 Apr 2020, 4:49 a.m.
Last Modified: 17 Apr 2020, 4:49 a.m.
Panel version: 0.53

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Royal Melbourne Hospital
GeneReviews

Phenotypes

?Spinocerebellar ataxia, autosomal recessive 22

OMIM

614884

Clinvar variants

Variants in VWA3B

Penetrance

None

Publications

26157035

Panels with this gene

History Filter Activity

1 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: vwa3b has been classified as Red List (Low Evidence).

19 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: VWA3B was added gene: VWA3B was added to Ataxia - adult onset_RMH. Sources: GeneReviews,Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: VWA3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VWA3B were set to 26157035 Phenotypes for gene: VWA3B were set to ?Spinocerebellar ataxia, autosomal recessive 22

Ataxia - adult onset Gene: VWA3B