Possible mitochondrial disorder - nuclear genes
Gene: PNPLA8Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 2:05 p.m.
Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 3 or 4 unrelated cases and functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial myopathy with lactic acidosis, 251950
Publications
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial myopathy with lactic acidosis, 251950
Publications
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
Gene: pnpla8 has been classified as Green List (High Evidence).
Gene: pnpla8 has been classified as Green List (High Evidence).
gene: PNPLA8 was added gene: PNPLA8 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PNPLA8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA8 were set to 29681094; 25512002; 25473036 Phenotypes for gene: PNPLA8 were set to ?Mitochondrial myopathy with lactic acidosis, 251950