Hereditary ataxia

Gene: ATXN10

Red List (low evidence)

ATXN10 (ataxin 10)
EnsemblGeneIds (GRCh38): ENSG00000130638
EnsemblGeneIds (GRCh37): ENSG00000130638
OMIM: 611150, Gene2Phenotype
ATXN10 is in 16 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM, not in G2P. CNVs (ATTCT)n associated with this gene. Cognitive impairment reported as a feature of this phenotype, but appears to be adult onset (PMID 17620556)
Created: 14 Dec 2017, 3:58 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spinocerebellar ataxia 10 603516

Publications

Alice Gardham (Genomics England)

Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice Gardham
Created: 5 Dec 2016, 9:22 a.m.

emma baple (Genomics England Curator)

Comment when marking as ready: Repeat expansion
Created: 11 Jul 2016, 4:37 a.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

I don't know

Repeat expansion. NOT APPROPRIATE
Created: 24 Nov 2015, 4:57 p.m.

Phenotypes
Spinocerebellarataxia10,603516

Mode of pathogenicity
Other - please provide details in the comments

History Filter Activity

5 Dec 2016, Gel status: 1

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for ATXN10 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

30 Nov 2016, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for ATXN10 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

8 Aug 2016, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for ATXN10 was changed to Other - please provide details in the comments

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATXN10 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen