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 - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    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 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

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