ATN1

atrophin 1
OMIM: 607462, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 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 1.83

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 1.80

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 - narrow panel


Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

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 1.332

    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


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    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 Adult onset neurodegenerative disorder


    Version 4.46
    Latest signed off version: v4.34 (31 Jul 2023)

    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 DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.173
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

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


    Version 4.30
    Latest signed off version: v4.0 (22 Mar 2023)

    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 Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    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 Childhood onset dystonia, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    review Other
    Sources
    • South West GLH
    Phenotypes
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Green ATN1 in Severe Paediatric Disorders


    Version 1.182

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Green ATN1_CAG STR in Parkinson Disease and Complex Parkinsonism

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.120

    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 1.83

    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 1.80

    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 - narrow panel


    Version 4.56
    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
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Dentatorubral-pallidoluysian atrophy, OMIM:125370
    Tags
    • STR
    • watchlist
    Green ATN1_CAG STR 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
    • 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


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    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 Adult onset neurodegenerative disorder


    Version 4.46
    Latest signed off version: v4.34 (31 Jul 2023)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.173
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 with onset in adulthood


    Version 4.30
    Latest signed off version: v4.0 (22 Mar 2023)

    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 Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

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