Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Intellectual disability syndromic and non-syndromic v0.4710 AP1S2 Zornitza Stark Marked gene: AP1S2 as ready
Intellectual disability syndromic and non-syndromic v0.4710 AP1S2 Zornitza Stark Gene: ap1s2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4710 AP1S2 Zornitza Stark Phenotypes for gene: AP1S2 were changed from to Pettigrew syndrome, MIM# 304340
Intellectual disability syndromic and non-syndromic v0.4709 AP1S2 Zornitza Stark Publications for gene: AP1S2 were set to
Intellectual disability syndromic and non-syndromic v0.4708 AP1S2 Zornitza Stark Mode of inheritance for gene: AP1S2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4707 AP1S2 Zornitza Stark reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17186471, 17617514, 19377476, 30714330, 23756445; Phenotypes: Pettigrew syndrome, MIM# 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.0 AP1S2 Zornitza Stark gene: AP1S2 was added
gene: AP1S2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: AP1S2 was set to Unknown