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Likely inborn error of metabolism - targeted testing not possible v1.47 | ALDH6A1 |
Ivone Leong Source NHS GMS was added to ALDH6A1. Source London North GLH was added to ALDH6A1. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDH6A1 |
Ellen McDonagh gene: ALDH6A1 was added gene: ALDH6A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDH6A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH6A1 were set to 27604308 Phenotypes for gene: ALDH6A1 were set to Methylmalonate semialdehyde dehydrogenase deficiency 614105; 3-Hydroxyisobutyric aciduria (Organic acidurias); Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias) |