Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Early onset or syndromic epilepsy v1.191 PPP3CA Rebecca Foulger Source Wessex and West Midlands GLH was added to PPP3CA.
Early onset or syndromic epilepsy v1.190 PPP3CA Rebecca Foulger Source NHS GMS was added to PPP3CA.
Early onset or syndromic epilepsy v1.189 PPP3CA Rebecca Foulger reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PPP3CA Tracy Lester reviewed gene: PPP3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28942967; Phenotypes: Arthrogryposis cleft palate craniosynostosis and impaired intellectual development, 618265, Epileptic encephalopathyinfantile or early childhood, 617711; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1404 PPP3CA Eleanor Williams Marked gene: PPP3CA as ready
Early onset or syndromic epilepsy v0.1404 PPP3CA Eleanor Williams Gene: ppp3ca has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1404 PPP3CA Eleanor Williams Publications for gene: PPP3CA were set to
Early onset or syndromic epilepsy v0.1403 PPP3CA Eleanor Williams Phenotypes for gene: PPP3CA were changed from to Epileptic encephalopathy, infantile or early childhood, 1 617711
Early onset or syndromic epilepsy v0.1402 PPP3CA Eleanor Williams Mode of inheritance for gene: PPP3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.1401 PPP3CA Eleanor Williams Classified gene: PPP3CA as Green List (high evidence)
Early onset or syndromic epilepsy v0.1401 PPP3CA Eleanor Williams Added comment: Comment on list classification: > 3 cases of de novo variants in this gene associated with Epileptic encephalopathy. Note variants in the catalytic domain result in loss of function and are associated with this phenotype. Variants in the AI domain of the protein are not thought to be loss of function and the clinical phenotype does not always include seizures.
Early onset or syndromic epilepsy v0.1401 PPP3CA Eleanor Williams Gene: ppp3ca has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1400 PPP3CA Eleanor Williams commented on gene: PPP3CA
Early onset or syndromic epilepsy PPP3CA Zornitza Stark reviewed gene: PPP3CA
Early onset or syndromic epilepsy PPP3CA Sarah Leigh Added gene to panel