06 Aug 2019
Early onset or syndromic epilepsy v1.191
PACS1
Rebecca Foulger Source Wessex and West Midlands GLH was added to PACS1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
PACS1
Rebecca Foulger Source NHS GMS was added to PACS1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
PACS1
Rebecca Foulger reviewed gene: PACS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
26 Sep 2018
Early onset or syndromic epilepsy v0.459
PACS1
Sarah Leigh Marked gene: PACS1 as ready
26 Sep 2018
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.
26 Sep 2018
Early onset or syndromic epilepsy v0.459
PACS1
Sarah Leigh Gene: pacs1 has been classified as Green List (High Evidence).
26 Sep 2018
Early onset or syndromic epilepsy v0.459
PACS1
Sarah Leigh Publications for gene: PACS1 were set to 28111752; 26842493; 23159249
26 Sep 2018
Early onset or syndromic epilepsy v0.458
PACS1
Sarah Leigh Publications for gene: PACS1 were set to 28111752; 26842493
26 Sep 2018
Early onset or syndromic epilepsy v0.457
PACS1
Sarah Leigh Classified gene: PACS1 as Green List (high evidence)
26 Sep 2018
Early onset or syndromic epilepsy v0.457
PACS1
Sarah Leigh Gene: pacs1 has been classified as Green List (High Evidence).
18 Aug 2018
Early onset or syndromic epilepsy
PACS1
Zornitza Stark reviewed gene: PACS1
16 Aug 2018
Early onset or syndromic epilepsy
PACS1
Konstantinos Varvagiannis Added gene to panel