Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Likely inborn error of metabolism - targeted testing not possible v1.47 ALDH4A1 Ivone Leong Source NHS GMS was added to ALDH4A1.
Source London North GLH was added to ALDH4A1.
Likely inborn error of metabolism - targeted testing not possible v0.4 ALDH4A1 Ellen McDonagh gene: ALDH4A1 was added
gene: ALDH4A1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH4A1 were set to 27604308
Phenotypes for gene: ALDH4A1 were set to Intellectual disability; Hyperprolinaemia type II (Disorders of ornithine or proline metabolism); Hyperprolinemia, type II