ATXN7_CAG

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green ATXN7_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 Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • STR
    Green ATXN7_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
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • STR
    Green ATXN7_CAG STR in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.308

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • STR
    Amber ATXN7_CAG STR in Childhood onset hereditary spastic paraplegia


    Version 4.39
    Latest signed off version: v4.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • STR
    Green ATXN7_CAG STR in Adult onset hereditary spastic paraplegia


    Version 3.21
    Latest signed off version: v3.14 (31 Jul 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • STR
    Amber ATXN7_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 Amber
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • STR
    • watchlist
    No list ATXN7_CAG STR in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.613

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • STR
    • curated_removed
    Amber ATXN7_CAG STR in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.476

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review
    • Expert Review Amber
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • STR
    No list ATXN7_CAG STR 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, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • STR
    • curated_removed
    Green ATXN7_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
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • STR
    No list ATXN7_CAG STR in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.81
    Latest signed off version: v4.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Maculopaty
    • Cone-Rod Dystrophy