Mitochondrial disorders
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: 4.146
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 9 Jan 2024, 11:01 a.m. | Last Modified: 9 Jan 2024, 11:01 a.m.
Panel Version: 4.146
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.
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 28247525
Publications for gene: COX5A were set to
Mode of inheritance for gene: COX5A was changed from to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
COX5A was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen