Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Intellectual disability syndromic and non-syndromic v0.948 PDP1 Zornitza Stark Marked gene: PDP1 as ready
Intellectual disability syndromic and non-syndromic v0.948 PDP1 Zornitza Stark Gene: pdp1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.948 PDP1 Zornitza Stark Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency, MIM#608782
Intellectual disability syndromic and non-syndromic v0.947 PDP1 Zornitza Stark Publications for gene: PDP1 were set to
Intellectual disability syndromic and non-syndromic v0.946 PDP1 Zornitza Stark Mode of inheritance for gene: PDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.945 PDP1 Zornitza Stark reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19184109, 15855260, 31392110; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency, MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 PDP1 Zornitza Stark gene: PDP1 was added
gene: PDP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: PDP1 was set to Unknown