Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Likely inborn error of metabolism - targeted testing not possible v1.47 ATP7A Ivone Leong Source NHS GMS was added to ATP7A.
Source London North GLH was added to ATP7A.
Likely inborn error of metabolism - targeted testing not possible v0.4 ATP7A Ellen McDonagh gene: ATP7A was added
gene: ATP7A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Menkes disease