PanelApp (test)
  1. Genes and Genomic Entities
  2. PNPLA8

PNPLA8

patatin like phospholipase domain containing 8
OMIM: 612123, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green PNPLA8 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial myopathy with lactic acidosis (MIM#251950), AR

Green PNPLA8 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Mitochondrial myopathy with lactic acidosis (MIM#251950), AR