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 1.48

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion

Red ATN1 in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.55

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion

Red ATN1 in Ataxia and cerebellar anomalies - narrow panel


Version 2.6
Signed off v.2.2 on 2 Mar 2020

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review Other - please specifiy in evaluation comments
    Sources
    • Expert Review Red

    Red ATN1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.205

    review Other - please specifiy in evaluation comments
    Sources
    • Expert Review Red
    • Eligibility statement prior genetic testing
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion

    Red ATN1 in Paroxysmal central nervous system disorders


    Version 1.3
    Signed off v.1.2 on 27 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Dentatorubro-pallidoluysian atrophy, 125370

    Red ATN1 in Neurodegenerative disorders - adult onset


    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Dentatorubro-pallidoluysian atrophy 125370
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion

    Amber ATN1 in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • DD-Gene2Phenotype
    Phenotypes
    • congenital hypotonia, epilepsy, developmental delay, digit abnormalities

    Green ATN1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.89
    Signed off v.2.2 on 13 Feb 2020

    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, 618494
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Generalized hypotonia

    Green ATN1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.80
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Generalized hypotonia
    • Global developmental delay
    • Intellectual disability
    • Seizures
    • Feeding difficulties
    • Abnormality of the cardiovascular system
    • Cleft palate
    • Abnormality of the kidney

    Red ATN1 in Hereditary ataxia - adult onset


    Version 2.8
    Signed off v.2.7 on 10 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • Wessex and West Midlands GLH
    • Brain channelopathy v1.46
    • Hereditary ataxia v1.148
    Phenotypes
    • Dentato-pallidoluysian atrophy
    • Dentatorubro-pallidoluysian atrophy 125370
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable

    Red ATN1 in Adult onset movement disorder


    Version 1.5
    Signed off v.1.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Dentatorubro-pallidoluysian atrophy 125370

    Red ATN1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    Phenotypes
    • Dentatorubro-pallidoluysian atrophy, 125370

    Green ATN1 in Severe Paediatric Disorders


    Version 1.6

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dentatorubral-pallidoluysian atrophy, 125370
    • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, 618494

    Green ATN1_CAG STR in Parkinson Disease and Complex Parkinsonism

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.68

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Dentatorubro-pallidoluysian atrophy 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 1.48

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dentatorubro-pallidoluysian atrophy 125370
    Tags
    • STR

    Green ATN1_CAG STR in Brain channelopathy

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.55

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dentatorubro-pallidoluysian atrophy 125370
    Tags
    • STR

    Green ATN1_CAG STR in Ataxia and cerebellar anomalies - narrow panel


    Version 2.6
    Signed off v.2.2 on 2 Mar 2020

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dentatorubro-pallidoluysian atrophy 125370
    Tags
    • STR

    Green ATN1_CAG STR in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.205

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dentatorubro-pallidoluysian atrophy 125370
    Tags
    • STR

    Red ATN1_CAG STR in Paroxysmal central nervous system disorders


    Version 1.3
    Signed off v.1.2 on 27 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Dentatorubro-pallidoluysian atrophy 125370
    Tags
    • STR

    Green ATN1_CAG STR in Neurodegenerative disorders - adult onset


    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dentatorubro-pallidoluysian atrophy 125370
    Tags
    • STR

    Green ATN1_CAG STR in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.89
    Signed off v.2.2 on 13 Feb 2020

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

    Green ATN1_CAG STR in Hereditary ataxia - adult onset


    Version 2.8
    Signed off v.2.7 on 10 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Dentatorubro-pallidoluysian atrophy 125370
    Tags
    • STR

    Green ATN1_CAG STR in Adult onset movement disorder


    Version 1.5
    Signed off v.1.2 on 2 Mar 2020

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