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| Likely inborn error of metabolism - targeted testing not possible v1.47 | ETHE1 |
Ivone Leong Source NHS GMS was added to ETHE1. Source London North GLH was added to ETHE1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ETHE1 |
Ellen McDonagh Added phenotypes Ethylmalonic encephalopathy, 602473; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Ethylmalonic encephalopathy for gene: ETHE1 Publications for gene ETHE1 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ETHE1 |
Ellen McDonagh gene: ETHE1 was added gene: ETHE1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, 602473; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Isolated complex IV deficiency; Ethylmalonic encephalopathy |
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