06 Aug 2019
Early onset or syndromic epilepsy v1.191
PACS2
Rebecca Foulger Source Wessex and West Midlands GLH was added to PACS2.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
PACS2
Rebecca Foulger Source NHS GMS was added to PACS2.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
PACS2
Rebecca Foulger reviewed gene: PACS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
17 Sep 2018
Early onset or syndromic epilepsy v0.413
PACS2
Sarah Leigh Marked gene: PACS2 as ready
17 Sep 2018
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).
17 Sep 2018
Early onset or syndromic epilepsy v0.413
PACS2
Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
17 Sep 2018
Early onset or syndromic epilepsy v0.413
PACS2
Sarah Leigh Classified gene: PACS2 as Green List (high evidence)
17 Sep 2018
Early onset or syndromic epilepsy v0.413
PACS2
Sarah Leigh Gene: pacs2 has been classified as Green List (High Evidence).
17 Sep 2018
Early onset or syndromic epilepsy v0.412
PACS2
Sarah Leigh Publications for gene: PACS2 were set to 29656858; 22488736
17 Sep 2018
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
18 Aug 2018
Early onset or syndromic epilepsy
PACS2
Zornitza Stark reviewed gene: PACS2
16 Aug 2018
Early onset or syndromic epilepsy
PACS2
Konstantinos Varvagiannis reviewed gene: PACS2
16 Aug 2018
Early onset or syndromic epilepsy
PACS2
Konstantinos Varvagiannis reviewed gene: PACS2
16 Aug 2018
Early onset or syndromic epilepsy
PACS2
Konstantinos Varvagiannis Added gene to panel