Mitochondrial disorder with complex IV deficiency
Gene: COX16The OMIM entry for this gene is OMIM:618064, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.Created: 16 Oct 2023, 8:38 p.m. | Last Modified: 16 Oct 2023, 8:38 p.m.
Panel Version: 3.2
Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, supporting the Amber rating of this gene on this panel based on current evidence.Created: 30 Aug 2022, 9:30 a.m. | Last Modified: 30 Aug 2022, 9:30 a.m.
Panel Version: 1.18
2 unrelated patients with the same homozygous (non-consanguineous) nonsense variant c.244C>T (p.Arg82*), and isolated complex IV deficiency present in both patient fibroblasts/skeletal muscle biopsy. COX16 is involved in the biogenesis of complex IV, the terminal complex of the mitochondrial respiratory chain. Leaving rating as Amber but further cases would help corroborate this gene-disease association.Created: 29 Jul 2022, 2:56 p.m. | Last Modified: 29 Jul 2022, 2:56 p.m.
Panel Version: 1.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355
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 assembly factorCreated: 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, 11:58 a.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, 11:39 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: COX16; Suggested intial gene rating: Green.Created: 1 Feb 2019, 4:34 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Tag gene-checked tag was added to gene: COX16.
Mode of inheritance for gene: COX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX16 were set to
Phenotypes for gene: COX16 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355; Hypertrophic cardiomyopathy; Encephalopathy; Severe fatal lactic acidosis
Gene: cox16 has been classified as Amber List (Moderate Evidence).
Gene: cox16 has been classified as Amber List (Moderate Evidence).
gene: COX16 was added gene: COX16 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX16 was set to Unknown Phenotypes for gene: COX16 were set to No OMIM phenotype