Possible mitochondrial disorder - nuclear genesGene: PDSS2
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
Coenzyme Q10 deficiency, primary, 3, 614652
Comment on list classification: Promoted from red to green due to expert review, and it is a confirmed DD gene for coezyme Q10 deficiency.
Created: 2 Mar 2016, 1:46 p.m.
gene: PDSS2 was added gene: PDSS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDSS2 were set to Coenzyme Q10 deficiency, primary, 3, 614652