Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Intellectual disability syndromic and non-syndromic v0.5982 CACNA1A Zornitza Stark Marked gene: CACNA1A as ready
Intellectual disability syndromic and non-syndromic v0.5982 CACNA1A Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.5982 CACNA1A Zornitza Stark Phenotypes for gene: CACNA1A were changed from to developmental and epileptic encephalopathy, 42 MONDO:0014917
Intellectual disability syndromic and non-syndromic v0.5981 CACNA1A Zornitza Stark Publications for gene: CACNA1A were set to
Intellectual disability syndromic and non-syndromic v0.5980 CACNA1A Zornitza Stark Mode of inheritance for gene: CACNA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.5705 CACNA1A Hali Van Niel reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476654, 33985586; Phenotypes: developmental and epileptic encephalopathy, 42 MONDO:0014917; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.0 CACNA1A Zornitza Stark gene: CACNA1A was added
gene: CACNA1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: CACNA1A was set to Unknown