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Early onset or syndromic epilepsy v1.191 PACS1 Rebecca Foulger Source Wessex and West Midlands GLH was added to PACS1.
Early onset or syndromic epilepsy v1.190 PACS1 Rebecca Foulger Source NHS GMS was added to PACS1.
Early onset or syndromic epilepsy v1.189 PACS1 Rebecca Foulger reviewed gene: PACS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PACS1 Tracy Lester reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23159249; Phenotypes: Schuurs-Hoeijmakers syndrome, 615009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.459 PACS1 Sarah Leigh Marked gene: PACS1 as ready
Early onset or syndromic epilepsy v0.459 PACS1 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 19 reports of a single de novo variant recorded.
Early onset or syndromic epilepsy v0.459 PACS1 Sarah Leigh Gene: pacs1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.459 PACS1 Sarah Leigh Publications for gene: PACS1 were set to 28111752; 26842493; 23159249
Early onset or syndromic epilepsy v0.458 PACS1 Sarah Leigh Publications for gene: PACS1 were set to 28111752; 26842493
Early onset or syndromic epilepsy v0.457 PACS1 Sarah Leigh Classified gene: PACS1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.457 PACS1 Sarah Leigh Gene: pacs1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy PACS1 Zornitza Stark reviewed gene: PACS1
Early onset or syndromic epilepsy PACS1 Konstantinos Varvagiannis Added gene to panel