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| Likely inborn error of metabolism - targeted testing not possible v1.321 | COQ7 | Sarah Leigh Classified gene: COQ7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.321 | COQ7 | Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in unrelated cases, together with supportive functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.321 | COQ7 | Sarah Leigh Gene: coq7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.320 | COQ7 | Sarah Leigh Added comment: Comment on phenotypes: complex multisystem presentation;primary coenzyme Q10 deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.320 | COQ7 | Sarah Leigh Phenotypes for gene: COQ7 were changed from complex multisystem presentation; primary coenzyme Q10 deficiency to ?Coenzyme Q10 deficiency, primary, 8 616733 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.319 | COQ7 | Sarah Leigh Publications for gene: COQ7 were set to PMID: 26084283 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ7 |
Ellen McDonagh gene: COQ7 was added gene: COQ7 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to PMID: 26084283 Phenotypes for gene: COQ7 were set to complex multisystem presentation; primary coenzyme Q10 deficiency |
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