Possible mitochondrial disorder - nuclear genes
Gene: COX7C
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, 1:02 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Publications
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 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 2:28 p.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.Created: 4 Feb 2019, 1:36 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, 2:12 p.m.
Gene: cox7c has been classified as Amber List (Moderate Evidence).
gene: COX7C was added gene: COX7C was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX7C was set to Unknown Phenotypes for gene: COX7C were set to No OMIM phenotype