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Early onset or syndromic epilepsy v1.191 SEPSECS Rebecca Foulger Source Wessex and West Midlands GLH was added to SEPSECS.
Early onset or syndromic epilepsy v1.190 SEPSECS Rebecca Foulger Source NHS GMS was added to SEPSECS.
Early onset or syndromic epilepsy v1.189 SEPSECS Rebecca Foulger reviewed gene: SEPSECS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.1353 SEPSECS Sarah Leigh Marked gene: SEPSECS as ready
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.
Early onset or syndromic epilepsy v0.1353 SEPSECS Sarah Leigh Gene: sepsecs has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1353 SEPSECS Sarah Leigh Classified gene: SEPSECS as Green List (high evidence)
Early onset or syndromic epilepsy v0.1353 SEPSECS Sarah Leigh Gene: sepsecs has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1352 SEPSECS Sarah Leigh Publications for gene: SEPSECS were set to 20920667; 25044680
Early onset or syndromic epilepsy v0.1351 SEPSECS Sarah Leigh Deleted their comment
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.
Early onset or syndromic epilepsy v0.1351 SEPSECS Sarah Leigh Publications for gene: SEPSECS were set to 20920667; 25044680
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.
Early onset or syndromic epilepsy v0.1347 SEPSECS Sarah Leigh Publications for gene: SEPSECS were set to 20920667; 25044680
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
Early onset or syndromic epilepsy v0.1345 SEPSECS Sarah Leigh Mode of inheritance for gene: SEPSECS was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1344 SEPSECS Sarah Leigh Publications for gene: SEPSECS were set to
Early onset or syndromic epilepsy v0.1343 SEPSECS Sarah Leigh Phenotypes for gene: SEPSECS were changed from to Pontocerebellar hypoplasia type 2D 613811
Early onset or syndromic epilepsy SEPSECS Zornitza Stark reviewed gene: SEPSECS
Early onset or syndromic epilepsy SEPSECS Sarah Leigh Added gene to panel