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Likely inborn error of metabolism - targeted testing not possible v1.47 | EARS2 |
Ivone Leong Source NHS GMS was added to EARS2. Source London North GLH was added to EARS2. |
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Likely inborn error of metabolism - targeted testing not possible 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 |
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Likely inborn error of metabolism - targeted testing not possible 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) |