PNPLA4

patatin like phospholipase domain containing 4
OMIM: 300102, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PNPLA4 in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Victorian Clinical Genetics Services

Red PNPLA4 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship