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Likely inborn error of metabolism - targeted testing not possible v1.47 | CYP27A1 |
Ivone Leong Source NHS GMS was added to CYP27A1. Source London North GLH was added to CYP27A1. |
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Likely inborn error of metabolism - targeted testing not possible v1.6 | CYP27A1 | Louise Daugherty Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis to Cerebrotendinous xanthomatosis, 213700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v0.4 | CYP27A1 |
Ellen McDonagh gene: CYP27A1 was added gene: CYP27A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 27604308 Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis |