Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Likely inborn error of metabolism - targeted testing not possible v4.90 ASL Eleanor Williams Publications for gene: ASL were set to 27604308
Likely inborn error of metabolism - targeted testing not possible v4.89 ASL Eleanor Williams Phenotypes for gene: ASL were changed from Argininosuccinic aciduria; Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias) to Argininosuccinic aciduria, OMIM:207900; argininosuccinic aciduria, MONDO:0008815
Likely inborn error of metabolism - targeted testing not possible v1.47 ASL Ivone Leong Source NHS GMS was added to ASL.
Source London North GLH was added to ASL.
Likely inborn error of metabolism - targeted testing not possible v0.4 ASL Ellen McDonagh gene: ASL was added
gene: ASL was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to 27604308
Phenotypes for gene: ASL were set to Argininosuccinic aciduria; Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias)