Hereditary ataxia with onset in adulthood
Gene: ATXN8Ensembl 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
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 RedCreated: 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-unreportableCreated: 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.
SCA8. Complex triplet repeat.Created: 27 Apr 2019, 7:39 p.m.
Tag ensembl_ids_known_missing tag was added to gene: ATXN8.
Source Expert Review Red was added to ATXN8. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Gene: atxn8 has been classified as Amber List (Moderate Evidence).
Source London North GMS was added to ATXN8.
Source NHS GMS was added to ATXN8.
Source Expert Review Green was added to ATXN8. Rating Changed from Red List (low evidence) to Green List (high evidence)
Louise Daugherty: Comment on phenotypes: Implica
Tag nucleotide-repeat-expansion tag was added to gene: ATXN8. Tag currently-ngs-unreportable tag was added to gene: ATXN8.
gene: ATXN8 was added gene: ATXN8 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: ATXN8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATXN8 were set to 10192387 Phenotypes for gene: ATXN8 were set to Spinocerebellar ataxia 8 608768 Mode of pathogenicity for gene: ATXN8 was set to Other - please provide details in the comments