Hereditary ataxia
Gene: ATXN10Associated 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
Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice GardhamCreated: 5 Dec 2016, 9:22 a.m.
Comment when marking as ready: Repeat expansionCreated: 11 Jul 2016, 4:37 a.m.
Repeat expansion. NOT APPROPRIATECreated: 24 Nov 2015, 4:57 p.m.
Phenotypes
Spinocerebellarataxia10,603516
Mode of pathogenicity
Other - please provide details in the comments
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
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
Mode of pathogenicity for ATXN10 was changed to Other - please provide details in the comments
This gene has been classified as Red List (Low Evidence).
ATXN10 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen