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Likely inborn error of metabolism v1.47 EARS2 Ivone Leong Source NHS GMS was added to EARS2.
Source London North GLH was added to EARS2.
Likely inborn error of metabolism v0.4 EARS2 Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: EARS2
Publications for gene EARS2 were changed from to 27604308
Likely inborn error of metabolism v0.4 EARS2 Ellen McDonagh gene: EARS2 was added
gene: EARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, 614924; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)