LRP12_OPDM1_CGG

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green LRP12_OPDM1_CGG STR in Mendeliome


Version 1.4851

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Oculopharyngodistal myopathy 1 MIM#164310
  • Amyotrophic lateral sclerosis MONDO:0004976
Tags
  • adult-onset

Green LRP12_OPDM1_CGG STR in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.65

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Oculopharyngodistal myopathy 1 MIM#164310

    Green LRP12_OPDM1_CGG STR in Repeat Disorders


    Version 0.272

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Oculopharyngodistal myopathy 1 MIM#164310
    • Amyotrophic lateral sclerosis MONDO:0004976
    Tags
    • adult-onset