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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PDSS2 |
Ivone Leong Source NHS GMS was added to PDSS2. Source London North GLH was added to PDSS2. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PDSS2 |
Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 3, 614652; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: PDSS2 Publications for gene PDSS2 were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PDSS2 |
Ellen McDonagh gene: PDSS2 was added gene: PDSS2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDSS2 were set to Coenzyme Q10 deficiency, primary, 3, 614652; Disorders of ubiquinone metabolism and biosynthesis |
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