Mitochondrial disease
Gene: MT-CO1EnsemblGeneIds (GRCh38): ENSG00000198804
EnsemblGeneIds (GRCh37): ENSG00000198804
OMIM: 516030, Gene2Phenotype
MT-CO1 is in 1 panel
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Sources: Expert listCreated: 19 Apr 2020, 2:55 a.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Leber's optic atrophy; Sideroblastic anaemia; Cytochrome c oxidase deficiency; Myoglobinuria
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Leber's optic atrophy
- Sideroblastic anaemia
- Cytochrome c oxidase deficiency
- Myoglobinuria
- Tags
- OMIM
- 516030
- Clinvar variants
- Variants in MT-CO1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mt-co1 has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag mtDNA tag was added to gene: MT-CO1.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mt-co1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MT-CO1 was added gene: MT-CO1 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL Phenotypes for gene: MT-CO1 were set to Leber's optic atrophy; Sideroblastic anaemia; Cytochrome c oxidase deficiency; Myoglobinuria Review for gene: MT-CO1 was set to GREEN