06 Aug 2019
Early onset or syndromic epilepsy v1.191
OCLN
Rebecca Foulger Source Wessex and West Midlands GLH was added to OCLN.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
OCLN
Rebecca Foulger Source NHS GMS was added to OCLN.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
OCLN
Rebecca Foulger reviewed gene: OCLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
OCLN
Tracy Lester reviewed gene: OCLN: Rating: GREEN; Mode of pathogenicity: ; Publications: 28386946; Phenotypes: Pseudo-TORCH syndrome, 251290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
14 Nov 2018
Early onset or syndromic epilepsy v0.862
OCLN
Eleanor Williams Marked gene: OCLN as ready
14 Nov 2018
Early onset or syndromic epilepsy v0.862
OCLN
Eleanor Williams Added comment: Comment when marking as ready: Sufficient cases with variants in OCLN and seizures reported.
14 Nov 2018
Early onset or syndromic epilepsy v0.862
OCLN
Eleanor Williams Gene: ocln has been classified as Green List (High Evidence).
14 Nov 2018
Early onset or syndromic epilepsy v0.862
OCLN
Eleanor Williams Phenotypes for gene: OCLN were changed from to Pseudo-TORCH syndrome 1 251290
14 Nov 2018
Early onset or syndromic epilepsy v0.861
OCLN
Eleanor Williams Publications for gene: OCLN were set to
14 Nov 2018
Early onset or syndromic epilepsy v0.860
OCLN
Eleanor Williams Mode of inheritance for gene: OCLN was changed from to BIALLELIC, autosomal or pseudoautosomal
14 Nov 2018
Early onset or syndromic epilepsy v0.859
OCLN
Eleanor Williams Classified gene: OCLN as Green List (high evidence)
14 Nov 2018
Early onset or syndromic epilepsy v0.859
OCLN
Eleanor Williams Added comment: Comment on list classification: More than 3 cases/variants reported in OCLN in patients with Pseudo-TORCH syndrome 1. At least 3 families with reports of seizures in newborns.
14 Nov 2018
Early onset or syndromic epilepsy v0.859
OCLN
Eleanor Williams Gene: ocln has been classified as Green List (High Evidence).
14 Nov 2018
Early onset or syndromic epilepsy v0.858
OCLN
Eleanor Williams commented on gene: OCLN
18 Aug 2018
Early onset or syndromic epilepsy
OCLN
Zornitza Stark reviewed gene: OCLN
25 Jun 2018
Early onset or syndromic epilepsy
OCLN
Sarah Leigh Added gene to panel