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Likely inborn error of metabolism - targeted testing not possible v1.47 CBS Ivone Leong Source NHS GMS was added to CBS.
Source London North GLH was added to CBS.
Likely inborn error of metabolism - targeted testing not possible v0.4 CBS Ellen McDonagh gene: CBS was added
gene: CBS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types