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Early onset or syndromic epilepsy v1.191 CLN3 Rebecca Foulger Source Wessex and West Midlands GLH was added to CLN3.
Early onset or syndromic epilepsy v1.190 CLN3 Rebecca Foulger Source NHS GMS was added to CLN3.
Early onset or syndromic epilepsy v1.189 CLN3 Rebecca Foulger reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.776 CLN3 Sarah Leigh Marked gene: CLN3 as ready
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.
Early onset or syndromic epilepsy v0.776 CLN3 Sarah Leigh Gene: cln3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.776 CLN3 Sarah Leigh Classified gene: CLN3 as Green List (high evidence)
Early onset or syndromic epilepsy v0.776 CLN3 Sarah Leigh Gene: cln3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.775 CLN3 Sarah Leigh Publications for gene: CLN3 were set to
Early onset or syndromic epilepsy v0.774 CLN3 Sarah Leigh Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3 204200
Early onset or syndromic epilepsy v0.773 CLN3 Sarah Leigh Mode of inheritance for gene: CLN3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy CLN3 Zornitza Stark reviewed gene: CLN3
Early onset or syndromic epilepsy CLN3 Sarah Leigh Added gene to panel