06 Aug 2019
Early onset or syndromic epilepsy v1.191
CLN3
Rebecca Foulger Source Wessex and West Midlands GLH was added to CLN3.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
CLN3
Rebecca Foulger Source NHS GMS was added to CLN3.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
CLN3
Rebecca Foulger reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
CLN3
Tracy Lester reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 7553855; Phenotypes: Ceroid lipofuscinosis neuronal, 204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
13 Nov 2018
Early onset or syndromic epilepsy v0.776
CLN3
Sarah Leigh Marked gene: CLN3 as ready
13 Nov 2018
Early onset or syndromic epilepsy v0.776
CLN3
Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in 3 unrelated cases in which seizures are a phenotypic feature.
13 Nov 2018
Early onset or syndromic epilepsy v0.776
CLN3
Sarah Leigh Gene: cln3 has been classified as Green List (High Evidence).
13 Nov 2018
Early onset or syndromic epilepsy v0.776
CLN3
Sarah Leigh Classified gene: CLN3 as Green List (high evidence)
13 Nov 2018
Early onset or syndromic epilepsy v0.776
CLN3
Sarah Leigh Gene: cln3 has been classified as Green List (High Evidence).
13 Nov 2018
Early onset or syndromic epilepsy v0.775
CLN3
Sarah Leigh Publications for gene: CLN3 were set to
13 Nov 2018
Early onset or syndromic epilepsy v0.774
CLN3
Sarah Leigh Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3 204200
13 Nov 2018
Early onset or syndromic epilepsy v0.773
CLN3
Sarah Leigh Mode of inheritance for gene: CLN3 was changed from to BIALLELIC, autosomal or pseudoautosomal
10 Aug 2018
Early onset or syndromic epilepsy
CLN3
Zornitza Stark reviewed gene: CLN3
04 Apr 2018
Early onset or syndromic epilepsy
CLN3
Sarah Leigh Added gene to panel