1. Genes and Genomic Entities
  2. ATXN3

ATXN3

ataxin 3
OMIM: 607047, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels
Red ATXN3 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.128

review Other
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Machado-Joseph disease, OMIM:109150
  • Susceptibility to Late-Onset Parkinson Disease
Tags
  • nucleotide-repeat-expansion
  • currently-ngs-unreportable
Red ATXN3 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.30
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review Other
    Sources
    • Expert Review Red
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATXN3 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.345

    		review Other
    Sources
    • Expert Review Red
    • Eligibility statement prior genetic testing
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion
    Red ATXN3 in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.5
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review Other
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    • Susceptibility to Late-Onset Parkinson Disease
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATXN3 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.23
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review Other
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATXN3 in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.10
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review Other
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Red
    • Hereditary ataxia v1.148
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATXN3 in Dystonia, chorea or related movement disorder, adult onset


    Level 2: Neurology
    Version 6.8
    Latest signed off version: v6.7 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review Other
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Green ATXN3_CAG STR in Parkinson Disease and Complex Parkinsonism

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.128

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • STR
    Green ATXN3_CAG STR in Early onset dystonia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.152

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • STR
    Amber ATXN3_CAG STR in Ataxia and cerebellar anomalies - childhood onset


    Level 2: Neurology
    Version 9.30
    Latest signed off version: v9.22 (12 Aug 2026)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • STR
    • watchlist
    Green ATXN3_CAG STR in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.345

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • STR
    Green ATXN3_CAG STR in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.316

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • STR
    Amber ATXN3_CAG STR in Hereditary spastic paraplegia, childhood onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.7 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • STR
    Green ATXN3_CAG STR in Hereditary spastic paraplegia, adult onset


    Level 2: Neurology
    Version 6.14
    Latest signed off version: v6.13 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • STR
    Amber ATXN3_CAG STR in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.5
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert list
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • STR
    • watchlist
    Green ATXN3_CAG STR in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.513

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • STR
    No list ATXN3_CAG STR in Intellectual disability


    Level 2: Developmental disorders
    Version 11.23
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • STR
    • curated_removed
    Green ATXN3_CAG STR in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.10
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • STR
    Green ATXN3_CAG STR in Dystonia, chorea or related movement disorder, adult onset


    Level 2: Neurology
    Version 6.8
    Latest signed off version: v6.7 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    • Expert list
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • STR
    Green ATXN3_CAG STR in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.31
    Latest signed off version: v8.30 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Machado-Joseph disease, OMIM:109150
    Tags
    • STR