Likely inborn error of metabolism - targeted testing not possible
Gene: COX5A
To date, two COX5A variants have been associated with Mitochondrial complex IV deficiency, nuclear type 20 (OMIM:619064) in two unrelated cases (PMID: 28247525;35246835). Analysis of patient fibroblasts has revealed a reduced enzymatic activity and protein levels of complex IV and several of its subunits, plus, lentiviral complementation rescues the complex IV deficiency (PMID: 28247525;35246835).Created: 9 Jan 2024, 12:36 p.m. | Last Modified: 9 Jan 2024, 12:36 p.m.
Panel Version: 4.122
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 9 Jan 2024, 11:02 a.m. | Last Modified: 9 Jan 2024, 11:02 a.m.
Panel Version: 4.122
Comment when marking as ready: Candidate gene therefore on the red list.Created: 26 Feb 2016, 4:59 p.m.
no mutation reports in literature;
good candidate gene for complex IV deficiency (encodes a subunit of the enzyme)Created: 4 Feb 2016, 1:18 p.m.
Gene: cox5a has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: COX5A.
Mode of inheritance for gene: COX5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX5A were changed from No OMIM phenotype to ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Publications for gene: COX5A were set to
Sarah Leigh: Associated with phenotype in O
gene: COX5A was added gene: COX5A was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX5A was set to Unknown Phenotypes for gene: COX5A were set to No OMIM phenotype