Ataxia - adult onset
Gene: ATXN10
Comment on list classification: Note: the pentanucleotide repeat is the only cause of ataxia for this gene, which is not detected by current WES/WGS technologies.Created: 18 Apr 2020, 7:12 a.m. | Last Modified: 18 Apr 2020, 7:12 a.m.
Panel Version: 0.46
Ataxia in 5 Mexican families, caused by an expansion of a pentanucleotide (ATTCT) repeat in intron 9 of the ATXN10 gene. There was an inverse correlation between the expansion size, up to 22.5 kb larger than the normal allele, and the age of onset.
Sources: Expert listCreated: 18 Apr 2020, 7:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 10 MIM#603516
Publications
Mode of pathogenicity
Other
Gene: atxn10 has been removed from the panel.
Gene: atxn10 has been classified as Green List (High Evidence).
Gene: atxn10 has been classified as Green List (High Evidence).
gene: ATXN10 was added gene: ATXN10 was added to Ataxia - adult onset. Sources: Expert list STR tags were added to gene: ATXN10. Mode of inheritance for gene: ATXN10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN10 were set to 11017075; 15127363 Phenotypes for gene: ATXN10 were set to Spinocerebellar ataxia 10 MIM#603516 Mode of pathogenicity for gene: ATXN10 was set to Other Review for gene: ATXN10 was set to GREEN