1. Genes and Genomic Entities
  2. PNPLA8

PNPLA8

patatin like phospholipase domain containing 8
OMIM: 612123, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green PNPLA8 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • ?Mitochondrial myopathy with lactic acidosis, 251950
    Green PNPLA8 in Possible mitochondrial disorder - nuclear genes


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

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • ?Mitochondrial myopathy with lactic acidosis, 251950
    Green PNPLA8 in Fetal anomalies


    Version 3.157
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • ?Mitochondrial myopathy with lactic acidosis, OMIM:251950
    Green PNPLA8 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • ?Mitochondrial myopathy with lactic acidosis, 251950
    Amber PNPLA8 in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Colorectal cancer, hereditary nonpolyposis, type 4, 614337
    • Mismatch repair cancer syndrome, 276300