Mitochondrial disorder with complex IV deficiency
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, 12:35 p.m. | Last Modified: 9 Jan 2024, 12:35 p.m.
Panel Version: 3.14
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: 3.14
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One family (2 sibs) and functional studiesCreated: 10 May 2019, 11:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Publications
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. Gene Symbol submitted: COX5A; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.Created: 1 Feb 2019, 4:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pulmonary arterial hypertension, lactic acidemia, and failure to thrive
Publications
Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 12:01 p.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 11:40 a.m.
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 Pulmonary arterial hypertension, lactic acidemia, and failure to thrive 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
Gene: cox5a has been classified as Amber List (Moderate Evidence).
Gene: cox5a has been classified as Amber List (Moderate Evidence).
gene: COX5A was added gene: COX5A was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX5A were set to 28247525 Phenotypes for gene: COX5A were set to Pulmonary arterial hypertension, lactic acidemia, and failure to thrive