1. Genes and Genomic Entities
  2. PNPLA8

PNPLA8

patatin like phospholipase domain containing 8
OMIM: 612123, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green PNPLA8 in Severe microcephaly


Level 2: Neurology
Version 9.3
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • ?Mitochondrial myopathy with lactic acidosis, OMIM:251950
  • mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0016825
Green PNPLA8 in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.4
Latest signed off version: v9.0 (6 May 2026)

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


    Level 2: Mitochondrial
    Version 5.4
    Latest signed off version: v5.0 (6 May 2026)

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


    Level 2: Fetal (including NIPD)
    Version 7.8
    Latest signed off version: v7.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • ?Mitochondrial myopathy with lactic acidosis, OMIM:251950
    Green PNPLA8 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PNPLA8-related progressive microcephaly with seizures and neurodegeneration
    Green PNPLA8 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.7
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • ?Mitochondrial myopathy with lactic acidosis, OMIM:251950
    • mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0016825
    Green PNPLA8 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • ?Mitochondrial myopathy with lactic acidosis, OMIM:251950
    • mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0016825
    Green PNPLA8 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.4
    Latest signed off version: v10.0 (6 May 2026)

    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