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| Likely inborn error of metabolism - targeted testing not possible v1.47 | GFM1 |
Ivone Leong Source NHS GMS was added to GFM1. Source London North GLH was added to GFM1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | GFM1 |
Ellen McDonagh Added phenotypes Combined oxidative phosphorylation deficiency 1, 609060; 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: GFM1 Publications for gene GFM1 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | GFM1 |
Ellen McDonagh gene: GFM1 was added gene: GFM1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1, 609060; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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