Activity

Filter

Cancel
Date Panel Item Activity
1 actions
Metal Metabolism Disorders v0.45 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Metal Metabolism Disorders. Sources: Expert Review Green
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 20170900, 33137485, 31969342, 31558336
Phenotypes for gene: ATP7A were set to Disorders of copper metabolism; Menkes disease MONDO:0010651, occipital Horn Syndrome (OHS, OMIM #304150), X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489)