AR_SBMA_CAG

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green AR_SBMA_CAG STR in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.11

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal and bulbar muscular atrophy of Kennedy MIM#313200
    Tags
    • STR

    Green AR_SBMA_CAG STR in Hereditary Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.26

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Spinal and bulbar muscular atrophy of Kennedy MIM#313200
    Tags
    • adult-onset

    Green AR_SBMA_CAG STR in Repeat Disorders


    Version 1.3

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal and bulbar muscular atrophy of Kennedy MIM#313200
    Tags
    • adult-onset