Acute rhabdomyolysis
Gene: MT-CO2
MT-CO2 (mitochondrially encoded cytochrome c oxidase II)
EnsemblGeneIds (GRCh38): ENSG00000198712
EnsemblGeneIds (GRCh37): ENSG00000198712
OMIM: 516040, Gene2Phenotype
MT-CO2 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000198712
EnsemblGeneIds (GRCh37): ENSG00000198712
OMIM: 516040, Gene2Phenotype
MT-CO2 is in 6 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 2:32 p.m. | Last Modified: 16 Feb 2022, 2:32 p.m.
Panel Version: 0.6
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Cytochrome oxidase deficiency, rhabdomyolysis
- Tags
- OMIM
- 516040
- Clinvar variants
- Variants in MT-CO2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
18 Oct 2023, Gel status: 3
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO2.
12 Sep 2023, Gel status: 3
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO2.
8 May 2022, Gel status: 3
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: MT-CO2.
19 Jan 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: MT-CO2 was added gene: MT-CO2 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL Publications for gene: MT-CO2 were set to 25929793; 28521807; 14733964; 23616164 Phenotypes for gene: MT-CO2 were set to Cytochrome oxidase deficiency, rhabdomyolysis