Mitochondrial disease
Gene: MT-CO3EnsemblGeneIds (GRCh38): ENSG00000198938
EnsemblGeneIds (GRCh37): ENSG00000198938
OMIM: 516050, Gene2Phenotype
MT-CO3 is in 1 panel
1 review
Chern Lim (Victorian Clinical Genetics Services)
Reported in at least 3 unrelated families (PMIDs: 20525945, 9634511, 11063732, 12414820).
Sources: LiteratureCreated: 3 Jun 2020, 12:01 a.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Leigh syndrome; Leigh-like syndrome; Myopathy; Encephalopathy and myopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leigh syndrome
- Leigh-like syndrome
- Myopathy
- Encephalopathy and myopathy
- OMIM
- 516050
- Clinvar variants
- Variants in MT-CO3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mt-co3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mt-co3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chern Lim (Victorian Clinical Genetics Services)gene: MT-CO3 was added gene: MT-CO3 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL Publications for gene: MT-CO3 were set to 20525945; 9634511; 11063732; 12414820 Phenotypes for gene: MT-CO3 were set to Leigh syndrome; Leigh-like syndrome; Myopathy; Encephalopathy and myopathy Review for gene: MT-CO3 was set to GREEN gene: MT-CO3 was marked as current diagnostic