PABPN1_OPMD_GCN

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PABPN1_OPMD_GCN STR in Mendeliome


Version 1.4851

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Oculopharyngeal muscular dystrophy MIM#164300
Tags
  • adult-onset

Green PABPN1_OPMD_GCN 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Oculopharyngeal muscular dystrophy MIM#164300

    Green PABPN1_OPMD_GCN STR in Repeat Disorders


    Version 0.272

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Oculopharyngeal muscular dystrophy MIM#164300
    Tags
    • adult-onset