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Likely inborn error of metabolism - targeted testing not possible v2.33 | ALDH7A1 | Eleanor Williams reviewed gene: ALDH7A1: Rating: ; Mode of pathogenicity: None; Publications: 32969477; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | ALDH7A1 |
Ivone Leong Source NHS GMS was added to ALDH7A1. Source London North GLH was added to ALDH7A1. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDH7A1 |
Ellen McDonagh gene: ALDH7A1 was added gene: ALDH7A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH7A1 were set to 27604308 Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent |