Genes in panel

Neurodegenerative disorders - adult onset

Gene: ATXN8

Red List (low evidence)

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

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Point mutations not associated with SCA8
Created: 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

Louise Daugherty (Genomics England Curator)

I don't know

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.

Anthony Dallosso (Bristol Genetics Laboratory)

Red List (low evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 8 608768
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
613289
Clinvar variants
Variants in ATXN8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ATXN8.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ATXN8.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to ATXN8.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

Added Tag, Added Tag

Rebecca Foulger (Genomics England curator)

Tag nucleotide-repeat-expansion tag was added to gene: ATXN8. Tag currently-ngs-unreportable tag was added to gene: ATXN8.

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

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