Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Mucopolysaccharidosis type II v0.1 IDS Achchuthan Shanmugasundram reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mucopolysaccharidosis type II v0.1 IDS Achchuthan Shanmugasundram gene: IDS was added
gene: IDS was added to Mucopolysaccharidosis type II. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females