Mitochondrial disorders
Gene: COX16EnsemblGeneIds (GRCh38): ENSG00000133983
EnsemblGeneIds (GRCh37): ENSG00000133983
COX16 is in 4 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The 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
Arina Puzriakova (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Sarah Leigh (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Mitochondrial complex IV deficiency, nuclear type 22, OMIM:619355
- Hypertrophic cardiomyopathy
- Encephalopathy
- Severe fatal lactic acidosis
- Tags
- Clinvar variants
- Variants in COX16
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag gene-checked tag was added to gene: COX16.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist tag was added to gene: COX16.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: cox16 has been classified as Amber List (Moderate Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: COX16 were set to
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: COX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Red was added to COX16. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Sarah Leigh (Genomics England Curator)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