Acute rhabdomyolysis
Gene: MT-CO1
MT-CO1 (mitochondrially encoded cytochrome c oxidase I)
EnsemblGeneIds (GRCh38): ENSG00000198804
EnsemblGeneIds (GRCh37): ENSG00000198804
OMIM: 516030, Gene2Phenotype
MT-CO1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000198804
EnsemblGeneIds (GRCh37): ENSG00000198804
OMIM: 516030, Gene2Phenotype
MT-CO1 is in 9 panels
2 reviews
Eleanor Williams (Genomics England Curator)
This gene is not currently associated with a disease phenotype in OMIM, but checked PMID:25929793 (from the Rhabdomyolysis and metabolic muscle disorders panel entry) to make sure it is the same gene listed in the publication as on this panel. The gene name in this publication is COX1 but this is an alias name for MT-CO1(https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7419) , and therefore it is likely this is the correct gene. Added the gene-checked tagCreated: 16 Oct 2023, 8:35 p.m. | Last Modified: 16 Oct 2023, 8:35 p.m.
Panel Version: 1.16
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
-
- Leber hereditary optic neuropathy
- Myoglobinuria
- Tags
- OMIM
- 516030
- Clinvar variants
- Variants in MT-CO1
- 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-CO1.
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-CO1.
8 May 2022, Gel status: 3
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: MT-CO1.
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-CO1 was added gene: MT-CO1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL Publications for gene: MT-CO1 were set to 25929793; 10980727 Phenotypes for gene: MT-CO1 were set to Leber hereditary optic neuropathy; Myoglobinuria