Adult onset neurodegenerative disorder
Gene: ATXN8Ensembl identifiers not available for GRCh37(release 82) or GRCh38 (release 90)Created: 8 Jul 2020, 12:50 p.m. | Last Modified: 8 Jul 2020, 12:50 p.m.
Panel Version: 2.4
Point mutations not associated with SCA8Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 8, 608768
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 3:05 p.m.
Associated with repeat expansion, but reduced penetrance and expansions in general population (15732096, 10700168) . Reported in multiple ataxia families. 8 kindreds described (10192387, 10980728), largest is 4-generational family with reduced penetrance - 20 unaffected individuals with expansion; Fully penetrant family (28229454); ORPHA:98760; OMIM Morbid: 608768.Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 8 608768
Tag ensembl_ids_known_missing tag was added to gene: ATXN8.
Source Yorkshire and North East GLH was added to ATXN8.
Source NHS GMS was added to ATXN8.
Source South West GLH was added to ATXN8.
Rebecca Foulger: Gene awaiting curator evaluati
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 Neurodegenerative disorders - adult onset. Sources: 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