PLIN4

perilipin 4
OMIM: 613247, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green MRUPAV_PLIN4 STR in Mendeliome


Version 1.2374

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

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


Level 2: Neurology and neurodevelopmental disorders
Version 1.45

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 MRUPAV STR in Repeat Disorders


    Version 0.168

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