Rhabdomyolysis and metabolic muscle disorders
Gene: MT-CO2EnsemblGeneIds (GRCh38): ENSG00000198712
EnsemblGeneIds (GRCh37): ENSG00000198712
OMIM: 516040, Gene2Phenotype
MT-CO2 is in 6 panels
2 reviews
Eleanor Williams (Genomics England Curator)
This gene is not currently associated with a disease phenotype in OMIM, but checked PMID:23616164 to make sure it is the same gene listed in the publication as on this panel and it is, so added the gene-checked tagCreated: 16 Oct 2023, 8:40 p.m. | Last Modified: 16 Oct 2023, 8:40 p.m.
Panel Version: 3.37
The rating of this gene has been updated to green and the mode of inheritance set to "MITOCHONDRIAL" following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 11:17 a.m. | Last Modified: 11 Oct 2023, 11:42 a.m.
Panel Version: 3.37
Mode of inheritance
MITOCHONDRIAL
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As recommended by Natalie Bibb and Andrew Swale, this gene is proposed for promotion to green as it is already green on the acute rhabdomyolysis panel (R419, https://panelapp.genomicsengland.co.uk/panels/1141/) based on recommendation by the NHS Genomic Medicine Service.Created: 23 Aug 2023, 5:29 p.m. | Last Modified: 23 Aug 2023, 5:29 p.m.
Panel Version: 3.25
Sources: Expert list, Expert ReviewCreated: 23 Aug 2023, 5:28 p.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Cytochrome oxidase deficiency; rhabdomyolysis, MONDO:0005290; myoglobinuria, MONDO:0000866
Publications
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- NHS GMS
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Cytochrome oxidase deficiency
- rhabdomyolysis, MONDO:0005290
- myoglobinuria, MONDO:0000866
- Tags
- OMIM
- 516040
- Clinvar variants
- Variants in MT-CO2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
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.
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: MT-CO2.
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green was removed from gene: MT-CO2. Tag Q3_23_NHS_review was removed from gene: MT-CO2.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to MT-CO2. Source NHS GMS was added to MT-CO2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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.
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green tag was added to gene: MT-CO2. Tag Q3_23_NHS_review tag was added to gene: MT-CO2.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: mt-co2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: MT-CO2 was added gene: MT-CO2 was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list,Expert Review Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL Publications for gene: MT-CO2 were set to 14733964; 23616164; 25929793; 28521807 Phenotypes for gene: MT-CO2 were set to Cytochrome oxidase deficiency; rhabdomyolysis, MONDO:0005290; myoglobinuria, MONDO:0000866 Review for gene: MT-CO2 was set to GREEN