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Likely inborn error of metabolism - targeted testing not possible v1.47 | COQ9 |
Ivone Leong Source NHS GMS was added to COQ9. Source London North GLH was added to COQ9. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ9 |
Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 5, 614654; Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: COQ9 Publications for gene COQ9 were changed from to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ9 |
Ellen McDonagh gene: COQ9 was added gene: COQ9 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5, 614654; Coenzyme Q10 deficiency; Disorders of ubiquinone metabolism and biosynthesis |