Mitochondrial disorder with complex IV deficiency
Gene: COX5B
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human disease; complex IV subunitCreated: 10 May 2019, 11:13 a.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
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.
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: COX5B; Suggested intial gene rating: Green.Created: 1 Feb 2019, 4:34 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
no mutation reports in literature;
good candidate gene for complex IV deficiency (encodes a subunit of the enzyme)Created: 4 Feb 2016, 1:19 p.m.
Gene: cox5b has been classified as Amber List (Moderate Evidence).
Gene: cox5b has been classified as Amber List (Moderate Evidence).
gene: COX5B was added gene: COX5B was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX5B was set to Unknown Phenotypes for gene: COX5B were set to No OMIM phenotype