Possible mitochondrial disorder - nuclear genes
Gene: PDSS1
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
Coenzyme Q10 deficiency, primary, 2, 614651
Publications
Comment on list classification: Two unrelated families/cases reported, but known to encode protein with role in CoQ10 synthesis pathway. It is a probable DD gene for Coenzyme Q10 deficiency, primary, 2, and expert reviewer suggests it should be green.Created: 22 Apr 2016, 9:34 a.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 2 Mar 2016, 1:43 p.m.
Comment on list classification: Promoted from red due to expert review, and it is a probable DD gene for Coenzyme Q10 deficiency, primary, 2.
Created: 2 Mar 2016, 1:42 p.m.
gene: PDSS1 was added gene: PDSS1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDSS1 were set to 22494076 Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, 614651