Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Intellectual disability syndromic and non-syndromic v0.5556 SMC1A Zornitza Stark Marked gene: SMC1A as ready
Intellectual disability syndromic and non-syndromic v0.5556 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5556 SMC1A Zornitza Stark Phenotypes for gene: SMC1A were changed from to Cornelia de Lange syndrome 2 MONDO:0010370
Intellectual disability syndromic and non-syndromic v0.5555 SMC1A Zornitza Stark Publications for gene: SMC1A were set to
Intellectual disability syndromic and non-syndromic v0.5554 SMC1A Zornitza Stark Mode of inheritance for gene: SMC1A 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)
Intellectual disability syndromic and non-syndromic v0.5549 SMC1A Kaitlyn Dianna Weldon reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301283; Phenotypes: Cornelia de Lange syndrome 2 MONDO:0010370; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.0 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: SMC1A was set to Unknown