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Genetic epilepsy syndromes

Gene: MT-CO3

Red List (low evidence)

MT-CO3 (mitochondrially encoded cytochrome c oxidase III)
EnsemblGeneIds (GRCh38): ENSG00000198938
EnsemblGeneIds (GRCh37): ENSG00000198938
OMIM: 516050, Gene2Phenotype
MT-CO3 is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

Added MT-CO3 to panel based on epilepsy/seizure phenotype on the 'Inborn errors of metabolism' panel. Currently insufficient evidence of epilepsy phenotype to support inclusion as a Green gene on this panel.
Created: 21 Oct 2019, 2:20 p.m. | Last Modified: 21 Oct 2019, 2:20 p.m.
Panel Version: 1.371

History Filter Activity

21 Oct 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: MT-CO3 was added gene: MT-CO3 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review Red Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL Publications for gene: MT-CO3 were set to 8739943; 12915481 Phenotypes for gene: MT-CO3 were set to seizures