ATXN3_CAG

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green ATXN3_CAG STR in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.70

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Machado-Joseph disease 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 1.89

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

Amber ATXN3_CAG STR in Ataxia and cerebellar anomalies - narrow panel


Version 2.243
Latest signed off version: v2.23 (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 Amber
    • Expert list
    Phenotypes
    • Machado-Joseph disease 109150
    Tags
    • STR
    • for-review

    Green ATXN3_CAG STR in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.245

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Machado-Joseph disease 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 1.259

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

    Amber ATXN3_CAG STR in Hereditary spastic paraplegia - childhood onset


    Version 2.87
    Latest signed off version: v2.18 (8 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Machado-Joseph disease 109150
    Tags
    • STR

    Green ATXN3_CAG STR in Hereditary spastic paraplegia - adult onset


    Version 1.73
    Latest signed off version: v1.27 (5 Aug 2021)

    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 109150
    Tags
    • STR

    Amber ATXN3_CAG STR in Neurodegenerative disorders - adult onset


    Version 2.201
    Latest signed off version: v2.178 (5 Aug 2021)

    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 109150
    Tags
    • STR
    • for-review

    Green ATXN3_CAG STR in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.418

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

    No list ATXN3_CAG STR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    Latest signed off version: v3.2 (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
    • Machado-Joseph disease 109150
    Tags
    • STR
    • curated_removed

    Green ATXN3_CAG STR in Hereditary ataxia - adult onset


    Version 2.90
    Latest signed off version: v2.13 (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
    • Machado-Joseph disease 109150
    Tags
    • STR

    Amber ATXN3_CAG STR in Adult onset movement disorder


    Version 1.125
    Latest signed off version: v1.121 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • London North GLH
    • Expert list
    Phenotypes
    • Machado-Joseph disease 109150
    Tags
    • STR
    • for-review