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 - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

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 1.344

    		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 Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    		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 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    		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 Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.3
    Latest signed off version: v5.0 (30 Apr 2025)

    		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 - narrow panel


    Level 2: Neurology
    Version 8.63
    Latest signed off version: v8.0 (30 Apr 2025)

    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 1.344

    		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 Childhood onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    		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 Adult onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 6.7
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    		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 1.506

    		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 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    		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 Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.3
    Latest signed off version: v5.0 (30 Apr 2025)

    		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 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

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