1. Genes and Genomic Entities
  2. ATN1

ATN1

atrophin 1
OMIM: 607462, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels
Red ATN1 in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.85

review Other
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red ATN1 in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review Other
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red ATN1 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.32
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
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATN1 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
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion
    Red ATN1 in Paroxysmal central nervous system disorders


    Level 2: Neurology
    Version 4.7
    Latest signed off version: v4.6 (12 Aug 2026)

    		review Other
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATN1 in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.11
    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
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion
    Green ATN1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
    Green ATN1 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
    Green ATN1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.73
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
    Green ATN1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.26
    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, imprinted status unknown
    Sources
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
    Red ATN1 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
    • Expert Review Red
    • NHS GMS
    • Wessex and West Midlands GLH
    • Brain channelopathy v1.46
    • Hereditary ataxia v1.148
    Phenotypes
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATN1 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
    • London North GLH
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATN1 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    		review Other
    Sources
    • South West GLH
    Phenotypes
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Green ATN1_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 Review
    Phenotypes
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • STR
    Green ATN1_CAG STR in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.85

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • STR
    Green ATN1_CAG STR in Brain channelopathy

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • STR
    Amber ATN1_CAG STR in Ataxia and cerebellar anomalies - childhood onset


    Level 2: Neurology
    Version 9.32
    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
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    • dentatorubral-pallidoluysian atrophy, MONDO:0007435
    Tags
    • STR
    • Q3_26_promote_green
    Amber ATN1_CAG STR in Leukodystrophy, adult onset


    Level 2: Neurology
    Version 7.9
    Latest signed off version: v7.8 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    • dentatorubral-pallidoluysian atrophy, MONDO:0007435
    Tags
    • STR
    • Q3_26_NHS_review
    • Q3_26_promote_green
    Green ATN1_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
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • STR
    Red ATN1_CAG STR in Paroxysmal central nervous system disorders


    Level 2: Neurology
    Version 4.7
    Latest signed off version: v4.6 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert list
    Phenotypes
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • STR
    Green ATN1_CAG STR in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.11
    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 Green
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert list
    Phenotypes
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • STR
    Green ATN1_CAG STR in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.73
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • STR
    Green ATN1_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
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • STR
    Green ATN1_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
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • STR