PNPLA4

patatin like phospholipase domain containing 4
OMIM: 300102, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red PNPLA4 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review Unknown
    Sources
    • Expert Review Red
    Red PNPLA4 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • No OMIM phenotype
    Red PNPLA4 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review Not set
    Sources
    • Victorian Clinical Genetics Services