Hereditary ataxia

Gene: ATXN8

Red List (low evidence)

ATXN8 (ataxin 8)
OMIM: 613289, Gene2Phenotype
ATXN8 is in 4 panels

1 review

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

CTG/CAG trinucleotide repeat expansion.
Created: 24 May 2017, 12:35 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 8 608768

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Spinocerebellar ataxia 8 608768
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
613289
Clinvar variants
Variants in ATXN8
Penetrance
Incomplete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

24 May 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

ATXN8 was added to Hereditary ataxiapanel. Sources: Literature

24 May 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

ATXN8 was created by arianna