Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Angelman Rett like syndromes v1.10 MECP2 Zornitza Stark changed review comment from: Well established gene-disease association, XLD.; to: Well established gene-disease association, XLD.
Angelman Rett like syndromes v0.66 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Angelman Rett like syndromes v0.66 MECP2 Zornitza Stark Gene: mecp2 has been classified as Green List (High Evidence).
Angelman Rett like syndromes v0.66 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from to Rett syndrome, MIM# 312750; MONDO:0010726
Angelman Rett like syndromes v0.65 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v0.64 MECP2 Zornitza Stark reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rett syndrome, MIM# 312750, MONDO:0010726; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Angelman Rett like syndromes v0.0 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to Angelman Rett like syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MECP2 was set to Unknown