06 Aug 2019
Early onset or syndromic epilepsy v1.191
SEPSECS
Rebecca Foulger Source Wessex and West Midlands GLH was added to SEPSECS.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
SEPSECS
Rebecca Foulger Source NHS GMS was added to SEPSECS.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
SEPSECS
Rebecca Foulger reviewed gene: SEPSECS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
SEPSECS
Tracy Lester reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: ; Publications: 27576344; Phenotypes: Pontocerebellar hypoplasia type 2D, 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Dec 2018
Early onset or syndromic epilepsy v0.1353
SEPSECS
Sarah Leigh Marked gene: SEPSECS as ready
04 Dec 2018
Early onset or syndromic epilepsy v0.1353
SEPSECS
Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least three variants identified in unrelated cases of Pontocerebellar hypoplasia type 2D 613811, however, the majority of published cases of this condition do not include seizures.
04 Dec 2018
Early onset or syndromic epilepsy v0.1353
SEPSECS
Sarah Leigh Gene: sepsecs has been classified as Green List (High Evidence).
04 Dec 2018
Early onset or syndromic epilepsy v0.1353
SEPSECS
Sarah Leigh Classified gene: SEPSECS as Green List (high evidence)
04 Dec 2018
Early onset or syndromic epilepsy v0.1353
SEPSECS
Sarah Leigh Gene: sepsecs has been classified as Green List (High Evidence).
04 Dec 2018
Early onset or syndromic epilepsy v0.1352
SEPSECS
Sarah Leigh Publications for gene: SEPSECS were set to 20920667; 25044680
04 Dec 2018
Early onset or syndromic epilepsy v0.1351
SEPSECS
Sarah Leigh Deleted their comment
04 Dec 2018
Early onset or syndromic epilepsy v0.1351
SEPSECS
Sarah Leigh Added comment: Comment on publications: No seizures reported in two milder cases of Pontocerebellar hypoplasia type 2D 613811 in PMID: 26888482. SEPSECS variants not reported in the cases that have seizures (21 trios) in PMID: 25590979. PMID: 26805434 case report of pontocerebellar hypoplasia type 2D and optic nerve atrophy, with homozygous SEPSECS variannt, but no seizures.
04 Dec 2018
Early onset or syndromic epilepsy v0.1351
SEPSECS
Sarah Leigh Publications for gene: SEPSECS were set to 20920667; 25044680
03 Dec 2018
Early onset or syndromic epilepsy v0.1347
SEPSECS
Sarah Leigh Added comment: Comment on publications: No seizures reported in two milder cases of Pontocerebellar hypoplasia type 2D 613811 in PMID: 26888482.
03 Dec 2018
Early onset or syndromic epilepsy v0.1347
SEPSECS
Sarah Leigh Publications for gene: SEPSECS were set to 20920667; 25044680
03 Dec 2018
Early onset or syndromic epilepsy v0.1346
SEPSECS
Sarah Leigh Mode of inheritance for gene: SEPSECS was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
03 Dec 2018
Early onset or syndromic epilepsy v0.1345
SEPSECS
Sarah Leigh Mode of inheritance for gene: SEPSECS was changed from to BIALLELIC, autosomal or pseudoautosomal
03 Dec 2018
Early onset or syndromic epilepsy v0.1344
SEPSECS
Sarah Leigh Publications for gene: SEPSECS were set to
03 Dec 2018
Early onset or syndromic epilepsy v0.1343
SEPSECS
Sarah Leigh Phenotypes for gene: SEPSECS were changed from to Pontocerebellar hypoplasia type 2D 613811
21 Aug 2018
Early onset or syndromic epilepsy
SEPSECS
Zornitza Stark reviewed gene: SEPSECS
25 Jun 2018
Early onset or syndromic epilepsy
SEPSECS
Sarah Leigh Added gene to panel