1. Genes and Genomic Entities
  2. PNPLA2

PNPLA2

patatin like phospholipase domain containing 2
OMIM: 609059, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green PNPLA2 in Rhabdomyolysis and metabolic muscle disorders


Level 2: Neurology
Version 6.1
Latest signed off version: v6.0 (6 May 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neutral lipid storage disease with myopathy, OMIM:610717
    Red PNPLA2 in Arthrogryposis


    Level 2: Neurology
    Version 10.5
    Latest signed off version: v10.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Neutral Lipid Storage Disease with Myopathy
    • Neutral lipid storage disease with myopathy, 610717
    Red PNPLA2 in Congenital myopathy


    Level 2: Neurology
    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Neutral lipid storage disease with myopathy, OMIM:610717
    Green PNPLA2 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


    Level 2: Neurology
    Version 6.1
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Neutral lipid storage disease with myopathy, OMIM:610717
    Green PNPLA2 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.4
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Neutral lipid storage disease with myopathy MIM#610717
    No list PNPLA2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.7
    Latest signed off version: v7.0 (6 May 2026)

    		review Not set
    Sources
    • Expert Review Removed
    Green PNPLA2 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY 610717
    Amber PNPLA2 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 8.1
    Latest signed off version: v8.0 (6 May 2026)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

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