Possible mitochondrial disorder - nuclear genesGene: GTPBP3
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
Combined oxidative phosphorylation deficiency 23, 61698
Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 2 Mar 2016, 12:23 p.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a confirmed DD gene for mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy.
Created: 2 Mar 2016, 12:22 p.m.
gene: GTPBP3 was added gene: GTPBP3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTPBP3 were set to Combined oxidative phosphorylation deficiency 23, 61698