SBMA

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green SBMA STR in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

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 SBMA STR in Repeat Disorders


    Version 0.167

    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