Mitochondrial disorders
Gene: PNPLA8Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 3 or 4 unrelated cases and functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).Created: 23 May 2019, 3:04 p.m.
Comment on list classification: Promoted from red to green based on expert review.Created: 2 May 2019, 3:28 p.m.
Three individuals from unrelated families reported with bi-allelic variants in this gene and mitochondrial disease.Created: 31 Aug 2018, 6:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial myopathy with lactic acidosis, MIM#251950
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: PNPLA8 were set to 29681094; 25512002
Gene: pnpla8 has been classified as Green List (High Evidence).
Source NHS GMS was added to PNPLA8. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: pnpla8 has been classified as Green List (High Evidence).
Phenotypes for gene: PNPLA8 were changed from to ?Mitochondrial myopathy with lactic acidosis, 251950
Publications for gene: PNPLA8 were set to
Mode of inheritance for gene: PNPLA8 was changed from to BIALLELIC, autosomal or pseudoautosomal
PNPLA8 was added to Mitochondrial disorders panel. Sources: Victorian Clinical Genetics Services
PNPLA8 was created by Sarah Leigh