Likely inborn error of metabolism - targeted testing not possible
Gene: COQ8Aadded new-gene-name tagCreated: 9 Dec 2016, 1:24 p.m.
New gene name for ADCK3 is COQ8ACreated: 31 Oct 2016, 12:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Publications
Comment on mode of inheritance: Source: G2P and OMIM.Created: 10 Feb 2016, 10:58 a.m.
Comment on list classification: Confirmed DD gene for Coenzyme Q10 deficiency, and expert review states this should be promoted from red to green.Created: 10 Feb 2016, 10:57 a.m.
This gene was submitted as "CABC1" in the expert list, which is likely to correspond to this HGNC-approved symbol.Created: 1 Jul 2015, 10:42 a.m.
Source NHS GMS was added to COQ8A. Source London North GLH was added to COQ8A.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 4, 612016 for gene: COQ8A Publications for gene COQ8A were changed from to 27604308
gene: COQ8A was added gene: COQ8A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency; Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 4, 612016