PNPLA2

patatin like domain 2, triacylglycerol lipase
OMIM: 609059, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PNPLA2 in Mendeliome


Version 2.594

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutral lipid storage disease with myopathy MIM#610717

Green PNPLA2 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.10

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neutral lipid storage disease with myopathy 610717

    Green PNPLA2 in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neutral lipid storage disease with myopathy MIM#610717

    Red PNPLA2 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 1.359

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • MetBioNet
    • South West GLH
    • NHS GMS
    Phenotypes
    • neutral lipid storage myopathy, MONDO:0012545