Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Likely inborn error of metabolism - targeted testing not possible v1.47 CLN8 Ivone Leong Source NHS GMS was added to CLN8.
Source London North GLH was added to CLN8.
Likely inborn error of metabolism - targeted testing not possible v0.4 CLN8 Ellen McDonagh gene: CLN8 was added
gene: CLN8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8