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 2.0

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 1.0

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