Ataxia - adult onset
Gene: TRPC3

TRPC3 (transient receptor potential cation channel subfamily C member 3)
EnsemblGeneIds (GRCh38): ENSG00000138741
EnsemblGeneIds (GRCh37): ENSG00000138741
OMIM: 602345, Gene2Phenotype
TRPC3 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A heterozygous gain-of function missense has been identified in a 40-year-old man with adult-onset spinocerebellar ataxia. A mouse model of dominant cerebellar ataxia, termed 'moonwalker', contains a gain-of-function variant in this gene.
Created: 17 Apr 2020, 4:41 a.m. | Last Modified: 17 Apr 2020, 4:41 a.m.

Panel Version: 0.27

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 41 MIM#616410

Publications

Mode of pathogenicity
Other

Created: 17 Apr 2020, 4:41 a.m.
Last Modified: 17 Apr 2020, 4:41 a.m.
Panel version: 0.27

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber
Royal Melbourne Hospital
GeneReviews

OMIM

602345

Clinvar variants

Variants in TRPC3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: trpc3 has been classified as Amber List (Moderate Evidence).

19 Dec 2019, Gel status: 2

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TRPC3 was added gene: TRPC3 was added to Ataxia - adult onset_RMH. Sources: GeneReviews,Royal Melbourne Hospital,Expert Review Amber Mode of inheritance for gene: TRPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPC3 were set to 25477146; 26112884

Ataxia - adult onset Gene: TRPC3