Mitochondrial disorder with complex IV deficiency
Gene: COX6A2
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:51 a.m. | Last Modified: 1 Feb 2023, 11:51 a.m.
Panel Version: 2.5
Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.Created: 30 Aug 2022, 9:10 a.m. | Last Modified: 30 Aug 2022, 9:10 a.m.
Panel Version: 1.17
At least two unrelated cases harbouring different biallelic variants in this gene (PMID: 31155743) and presenting with a consistent phenotype of congenital myopathy. Functional studies and two mouse models are supportive of pathogenicity (PMID: 23460811; 31155743; 32744742)Created: 25 Aug 2022, 10:14 a.m. | Last Modified: 25 Aug 2022, 10:14 a.m.
Panel Version: 1.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
Publications
Variants in this GENE are reported as part of current diagnostic practice
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, 12:02 p.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently 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: COX6A2; Suggested intial gene rating: Green.Created: 1 Feb 2019, 4:34 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Tag Q3_22_rating was removed from gene: COX6A2. Tag Q3_22_NHS_review was removed from gene: COX6A2.
Source Expert Review Green was added to COX6A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: COX6A2 were set to
Mode of inheritance for gene: COX6A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6A2 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062
Tag Q3_22_rating tag was added to gene: COX6A2. Tag Q3_22_NHS_review tag was added to gene: COX6A2.
Gene: cox6a2 has been classified as Amber List (Moderate Evidence).
Gene: cox6a2 has been classified as Amber List (Moderate Evidence).
gene: COX6A2 was added gene: COX6A2 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX6A2 was set to Unknown Phenotypes for gene: COX6A2 were set to No OMIM phenotype