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| Likely inborn error of metabolism - targeted testing not possible v1.47 | COQ8A |
Ivone Leong Source NHS GMS was added to COQ8A. Source London North GLH was added to COQ8A. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ8A |
Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 4, 612016 for gene: COQ8A Publications for gene COQ8A were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ8A |
Ellen McDonagh gene: COQ8A was added gene: COQ8A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency; Disorders of ubiquinone metabolism and biosynthesis; Coenzyme Q10 deficiency, primary, 4, 612016 |
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