AR_CAG

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green AR_CAG STR in Distal myopathies


Level 2: Neurology
Version 7.1
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
    Tags
    • STR
    Green AR_CAG STR in Congenital myopathy


    Level 2: Neurology
    Version 7.44
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
    Tags
    • STR
    Green AR_CAG STR in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 9.1
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
    Tags
    • STR
    Green AR_CAG STR in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.74

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
    Tags
    • STR
    Green AR_CAG STR in Paediatric motor neuronopathies


    Level 2: Neurology
    Version 3.16
    Latest signed off version: v3.13 (6 May 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
    Tags
    • STR
    Green AR_CAG STR in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
    Tags
    • STR
    Green AR_CAG STR in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.4
    Latest signed off version: v8.0 (6 May 2026)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
    Tags
    • STR