06 Aug 2019
Early onset or syndromic epilepsy v1.191
PPP3CA
Rebecca Foulger Source Wessex and West Midlands GLH was added to PPP3CA.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
PPP3CA
Rebecca Foulger Source NHS GMS was added to PPP3CA.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
PPP3CA
Rebecca Foulger reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
05 Dec 2018
Early onset or syndromic epilepsy v0.1404
PPP3CA
Eleanor Williams Marked gene: PPP3CA as ready
05 Dec 2018
Early onset or syndromic epilepsy v0.1404
PPP3CA
Eleanor Williams Gene: ppp3ca has been classified as Green List (High Evidence).
05 Dec 2018
Early onset or syndromic epilepsy v0.1404
PPP3CA
Eleanor Williams Publications for gene: PPP3CA were set to
05 Dec 2018
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
05 Dec 2018
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
05 Dec 2018
Early onset or syndromic epilepsy v0.1401
PPP3CA
Eleanor Williams Classified gene: PPP3CA as Green List (high evidence)
05 Dec 2018
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.
05 Dec 2018
Early onset or syndromic epilepsy v0.1401
PPP3CA
Eleanor Williams Gene: ppp3ca has been classified as Green List (High Evidence).
05 Dec 2018
Early onset or syndromic epilepsy v0.1400
PPP3CA
Eleanor Williams commented on gene: PPP3CA
19 Aug 2018
Early onset or syndromic epilepsy
PPP3CA
Zornitza Stark reviewed gene: PPP3CA
25 Jun 2018
Early onset or syndromic epilepsy
PPP3CA
Sarah Leigh Added gene to panel