1. Genes and Genomic Entities
  2. ATXN8

ATXN8

ataxin 8
OMIM: 613289, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red ATXN8 in Ataxia and cerebellar anomalies - narrow panel


Version 4.64
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • Spinocerebellar ataxia 8
    Tags
    • ensembl_ids_known_missing
    Red ATXN8 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 8 608768
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion
    • ensembl_ids_known_missing
    Red ATXN8 in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Spinocerebellar ataxia 8 608768
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    • ensembl_ids_known_missing
    Red ATXN8 in Hereditary ataxia with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • London North GLH
    • NHS GMS
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellar ataxia 8 608768
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    • ensembl_ids_known_missing