Hereditary ataxia with onset in adulthood

Gene: ATXN8

Ensembl identifiers not available for GRCh37(release 82) or GRCh38 (release 90)

Created: 8 Jul 2020, 12:51 p.m. | Last Modified: 8 Jul 2020, 12:51 p.m.

Panel Version: 2.8

I don't know

Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red

Created: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.

Panel Version: 1.188

added tags nucleotide-repeat-expansion and currently-ngs-unreportable

Created: 14 May 2019, 12:21 p.m.

Comment on list classification: The gene was added via completed curation template supplied by expert review for Neurology Test Group R54. However, due to the review comments downgraded to Amber from expert review Green. This potentially is a new STR and if so, needs added as a STR entity, not Gene entity. Note there is no ENSG ID for this gene for either GRCh38 or GRCh37 so we need to make sure Cellbase has updates for this if the STR is added. To be discussed with Neurology Test group when agreeing panels under Ataxia and Neurodegenerative disorders.

Created: 14 May 2019, 11:48 a.m.

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group

Created: 27 Apr 2019, 8:55 p.m.

Green List (high evidence)

SCA8. Complex triplet repeat.

Created: 27 Apr 2019, 7:39 p.m.