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| Likely inborn error of metabolism - targeted testing not possible v1.47 | SARS2 |
Ivone Leong Source NHS GMS was added to SARS2. Source London North GLH was added to SARS2. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SARS2 |
Ellen McDonagh Added phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845; 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: SARS2 Publications for gene SARS2 were changed from PMID: 21255763; 24034276 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SARS2 |
Ellen McDonagh gene: SARS2 was added gene: SARS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS2 were set to PMID: 21255763; 24034276 Phenotypes for gene: SARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 |
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