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| Likely inborn error of metabolism - targeted testing not possible v0.13 | C1QBP | Sarah Leigh Classified gene: C1QBP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.13 | C1QBP | Sarah Leigh Gene: c1qbp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.12 | C1QBP |
Sarah Leigh gene: C1QBP was added gene: C1QBP was added to Inborn errors of metabolism. Sources: Literature,Expert Review Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QBP were set to 28942965 Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33 617713 Review for gene: C1QBP was set to GREEN Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported 4 unrelated cases. Sources: Literature, Expert Review |
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