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  2. AR_SBMA_CAG

AR_SBMA_CAG

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green AR_SBMA_CAG STR in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

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 Repeat Disorders


    Version 0.256

    		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