Mitochondrial disorders
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, 8:39 p.m. | Last Modified: 16 Oct 2023, 8:39 p.m.
Panel Version: 4.99
Comment on list classification: Rating Amber on the basis of two unrelated cases reported in literature (PMID: 33169484), although notably both harbour the same homozygous variant. Further cases would help corroborate this gene-disease association (added 'watchlist' tag)Created: 29 Jul 2022, 2:54 p.m. | Last Modified: 29 Jul 2022, 2:54 p.m.
Panel Version: 2.116
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.Created: 9 Dec 2020, 7:25 a.m. | Last Modified: 9 Dec 2020, 7:25 a.m.
Panel Version: 2.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis
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.Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Tag gene-checked tag was added to gene: COX16.
Tag watchlist tag was added to gene: COX16.
Gene: cox16 has been classified as Amber List (Moderate Evidence).
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
Mode of inheritance for gene: COX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Red was added to COX16. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
gene: COX16 was added gene: COX16 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: COX16 was set to Unknown Phenotypes for gene: COX16 were set to No OMIM phenotype