Mitochondrial disorder with complex IV deficiency
Gene: COA1
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 assembly factorCreated: 10 May 2019, 11:13 a.m.
Mode of inheritance
Unknown
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: COA1; Suggested intial gene rating: Green.Created: 1 Feb 2019, 4:34 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
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, 11:15 a.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, 11:35 a.m.
Comment when marking as ready: Candidate gene - should remain red.Created: 26 Feb 2016, 3:45 p.m.
aka C7orf44;
no mutation reports in literature but good candidate for complex IV deficiency (known assembly factor)Created: 4 Feb 2016, 1:04 p.m.
Gene: coa1 has been classified as Amber List (Moderate Evidence).
Gene: coa1 has been classified as Amber List (Moderate Evidence).
gene: COA1 was added gene: COA1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COA1 was set to Unknown Phenotypes for gene: COA1 were set to No OMIM phenotype