NUTM2B-AS1_OPDM_CCG

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green NUTM2B-AS1_OPDM_CCG STR in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.58

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Oculopharyngodistal myopathy MONDO:0025193

    Green NUTM2B-AS1_OPDM_CCG STR in Repeat Disorders


    Version 0.256

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Oculopharyngeal myopathy with leukoencephalopathy 1 MIM#618637
    Tags
    • adult-onset