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Early onset or syndromic epilepsy v1.191 OCLN Rebecca Foulger Source Wessex and West Midlands GLH was added to OCLN.
Early onset or syndromic epilepsy v1.190 OCLN Rebecca Foulger Source NHS GMS was added to OCLN.
Early onset or syndromic epilepsy v1.189 OCLN Rebecca Foulger reviewed gene: OCLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.862 OCLN Eleanor Williams Marked gene: OCLN as ready
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.
Early onset or syndromic epilepsy v0.862 OCLN Eleanor Williams Gene: ocln has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.862 OCLN Eleanor Williams Phenotypes for gene: OCLN were changed from to Pseudo-TORCH syndrome 1 251290
Early onset or syndromic epilepsy v0.861 OCLN Eleanor Williams Publications for gene: OCLN were set to
Early onset or syndromic epilepsy v0.860 OCLN Eleanor Williams Mode of inheritance for gene: OCLN was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.859 OCLN Eleanor Williams Classified gene: OCLN as Green List (high evidence)
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.
Early onset or syndromic epilepsy v0.859 OCLN Eleanor Williams Gene: ocln has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.858 OCLN Eleanor Williams commented on gene: OCLN
Early onset or syndromic epilepsy OCLN Zornitza Stark reviewed gene: OCLN
Early onset or syndromic epilepsy OCLN Sarah Leigh Added gene to panel