Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Early onset or syndromic epilepsy v1.191 PACS2 Rebecca Foulger Source Wessex and West Midlands GLH was added to PACS2.
Early onset or syndromic epilepsy v1.190 PACS2 Rebecca Foulger Source NHS GMS was added to PACS2.
Early onset or syndromic epilepsy v1.189 PACS2 Rebecca Foulger reviewed gene: PACS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PACS2 Tracy Lester reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30290155; Phenotypes: Epileptic encephalopathy, early infantile, 618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.413 PACS2 Sarah Leigh Marked gene: PACS2 as ready
Early onset or syndromic epilepsy v0.413 PACS2 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. Single de novo variant reported in at least 14 unrelated cases variants (PMID 29656858), together with previous reports of haploinsufficiency encompassing the PACS2 gene (PMID 28867141).
Early onset or syndromic epilepsy v0.413 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.413 PACS2 Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.413 PACS2 Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.412 PACS2 Sarah Leigh Publications for gene: PACS2 were set to 29656858; 22488736
Early onset or syndromic epilepsy v0.411 PACS2 Sarah Leigh Phenotypes for gene: PACS2 were changed from Global developmental delay; Intellectual disability; Seizures; Abnormality of the cerebrum to Epileptic encephalopathy, early infantile, 66, 618067
Early onset or syndromic epilepsy PACS2 Zornitza Stark reviewed gene: PACS2
Early onset or syndromic epilepsy PACS2 Konstantinos Varvagiannis reviewed gene: PACS2
Early onset or syndromic epilepsy PACS2 Konstantinos Varvagiannis reviewed gene: PACS2
Early onset or syndromic epilepsy PACS2 Konstantinos Varvagiannis Added gene to panel