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Likely inborn error of metabolism v1.47 MTO1 Ivone Leong Source NHS GMS was added to MTO1.
Source London North GLH was added to MTO1.
Likely inborn error of metabolism v0.4 MTO1 Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 10, 614702; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); infantile hypertrophic cardiomyopathy and lactic acidosis. for gene: MTO1
Publications for gene MTO1 were changed from to 27604308
Likely inborn error of metabolism v0.4 MTO1 Ellen McDonagh gene: MTO1 was added
gene: MTO1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were set to Combined oxidative phosphorylation deficiency 10, 614702; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); infantile hypertrophic cardiomyopathy and lactic acidosis.