Likely inborn error of metabolism - targeted testing not possible
Gene: COX14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Both reviewers agree this should be promoted from red to green, and one reports variants within this gene as part of diagnostic practice. It is a possible DD gene for mitochondrial complex IV deficiency.Created: 10 Feb 2016, 11:55 a.m.
Comment on mode of inheritance: Confirmed on OMIM and G2P.Created: 10 Feb 2016, 11:53 a.m.
aka C12orf62;
single mutation report in literatureCreated: 4 Feb 2016, 1:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to COX14. Source London North GLH was added to COX14.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: COX14 Publications for gene COX14 were changed from PMID: 22243966 to 27604308
gene: COX14 was added gene: COX14 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX14 were set to PMID: 22243966 Phenotypes for gene: COX14 were set to Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency