PanelApp (staging)
  1. Genes and Genomic Entities
  2. PNPLA2

PNPLA2

patatin like phospholipase domain containing 2
OMIM: 609059, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PNPLA2 in Mendeliome


Version 1.2302

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 1.42

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 1.20

    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

    Green PNPLA2 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • MetBioNet
    • South West GLH
    • NHS GMS
    Phenotypes
    • DCM
    • Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes
    • Neutral lipid storage disease with myopathy NLSDM