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| Likely inborn error of metabolism - targeted testing not possible v1.47 | SURF1 |
Ivone Leong Source NHS GMS was added to SURF1. Source London North GLH was added to SURF1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SURF1 |
Ellen McDonagh Added phenotypes Mitochondrial Diseases; Complex IV deficiency; Leigh Syndrome; Isolated complex IV deficiency; Leigh syndrome, due to COX deficiency, 256000; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: SURF1 Publications for gene SURF1 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SURF1 |
Ellen McDonagh gene: SURF1 was added gene: SURF1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SURF1 were set to Mitochondrial Diseases; Complex IV deficiency; Isolated complex IV deficiency; Leigh Syndrome; Leigh syndrome, due to COX deficiency, 256000 |
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