PLIN4_MRUPAV_33-mer

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PLIN4_MRUPAV_33-mer STR in Mendeliome


Version 1.2511

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • myopathy, distal, with rimmed vacuoles MONDO:0014945
Tags
  • STR

Green PLIN4_MRUPAV_33-mer 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
    • myopathy, distal, with rimmed vacuoles MONDO:0014945

    Green PLIN4_MRUPAV_33-mer STR in Repeat Disorders


    Version 0.256

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • myopathy, distal, with rimmed vacuoles MONDO:0014945
    Tags
    • adult-onset