ATXN2

ataxin 2
OMIM: 601517, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels

Red ATXN2 in Parkinson Disease and Complex Parkinsonism

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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • (CAGexpansion)
  • familial parkinsonism
Tags
  • nucleotide-repeat-expansion

Red ATXN2 in Ataxia and cerebellar anomalies - narrow panel


Version 2.24
Signed off v.2.23 on 8 Oct 2020

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090

    Red ATXN2 in Hereditary ataxia

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

    review Not set
    Sources
    • Expert Review Red
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion

    Red ATXN2 in Neurodegenerative disorders - adult onset


    Version 2.32
    Signed off v.2.31 on 8 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Spinocerebellar ataxia 2, 183090
    • familial parkinsonism
    • {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090
    • Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090
    • (CAGexpansion)
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable

    Red ATXN2 in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.29

    review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spinocerebellar ataxia 2, 183090
    • {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090
    Tags
    • nucleotide-repeat-expansion

    Red ATXN2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.500
    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 Red
    • Literature
    • Expert Review Amber
    Phenotypes
    • Spinocerebellar ataxia 2 183090
    • {Amyotrophic lateral sclerosis, susceptibility to, 13} 183090
    Tags
    • nucleotide-repeat-expansion

    Red ATXN2 in Hereditary ataxia - adult onset


    Version 2.14
    Signed off v.2.13 on 6 Oct 2020

    review Unknown
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Red
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellarataxia2, 183090
    • Spinocerebellar ataxia 2, 183090
    • {Amyotrophiclateralsclerosis,susceptibilityto,13},183090
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable

    Red ATXN2 in Adult onset movement disorder


    Version 1.15
    Signed off v.1.14 on 15 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • {Parkinson disease, late-onset, susceptibility to}, 168600
    • (CAGexpansion)
    • familial parkinsonism
    • Spinocerebellar ataxia 2, 183190
    • {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183190

    Green ATXN2 in Severe Paediatric Disorders


    Version 1.12

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 2, 183090

    Green ATXN2_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 list
    Phenotypes
    • Spinocerebellar ataxia 2 183090
    Tags
    • STR

    Green ATXN2_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 Review
    Phenotypes
    • Spinocerebellar ataxia 2 183090
    Tags
    • STR

    Green ATXN2_CAG STR in Early onset dystonia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.81

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 2 183090
    Tags
    • STR

    Green ATXN2_CAG STR in Ataxia and cerebellar anomalies - narrow panel


    Version 2.24
    Signed off v.2.23 on 8 Oct 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
    • Spinocerebellar ataxia 2 183090
    Tags
    • STR

    Green ATXN2_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
    • Spinocerebellar ataxia 2 183090
    Tags
    • STR

    Green ATXN2_CAG STR in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.217

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 2 183090
    Tags
    • STR

    Amber ATXN2_CAG STR in Hereditary spastic paraplegia - childhood onset


    Version 2.19
    Signed off v.2.18 on 8 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 2 183090
    Tags
    • STR

    Green ATXN2_CAG STR in Hereditary spastic paraplegia - adult onset


    Version 1.13
    Signed off v.1.12 on 15 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 2 183090
    Tags
    • STR

    Amber ATXN2_CAG STR in Neurodegenerative disorders - adult onset


    Version 2.32
    Signed off v.2.31 on 8 Oct 2020

    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
    • Spinocerebellar ataxia 2 183090
    Tags
    • STR
    • for-review

    No list ATXN2_CAG STR in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.29

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 2 183090
    Tags
    • STR

    Green ATXN2_CAG STR in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.377

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 2 183090
    Tags
    • STR

    No list ATXN2_CAG STR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.500
    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, NOT imprinted
    Sources
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 2 183090
    Tags
    • STR

    Green ATXN2_CAG STR in Hereditary ataxia - adult onset


    Version 2.14
    Signed off v.2.13 on 6 Oct 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
    • Spinocerebellar ataxia 2 183090
    Tags
    • STR

    Amber ATXN2_CAG STR in Adult onset movement disorder


    Version 1.15
    Signed off v.1.14 on 15 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • London North GLH
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 2 183090
    Tags
    • STR
    • for-review

    Green ATXN2_CAG STR in Childhood onset dystonia or chorea or related movement disorder


    Version 1.62
    Signed off v.1.58 on 6 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 2, 183090
    Tags
    • STR