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Early onset or syndromic epilepsy v1.398 CLN6 Rebecca Foulger commented on gene: CLN6: PMID:30561534. Berkovic et al., 2019 report phenotypes of patients with CLN6 pathogenic variants from 13 unrelated families (homozygous in 4 families and compound het in 9 families). The typical presentation was progressive myoclonus epilepsy with debilitating myoclonic seizures and relatively infrequent tonic-clonic seizures.
Early onset or syndromic epilepsy v1.398 CLN6 Rebecca Foulger Publications for gene: CLN6 were set to 21549341; 31029456; 31216804
Early onset or syndromic epilepsy v1.395 CLN6 Rebecca Foulger Publications for gene: CLN6 were set to 21549341; 31029456
Early onset or syndromic epilepsy v1.394 CLN6 Rebecca Foulger changed review comment from: PMID:31216804. Zhang et al. 2019 identify the pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy. 1 patient had a variant in CLN6 (full English text not avaialble).; to: PMID:31216804. Zhang et al. 2019 identify the pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy. 1 patient had a variant in CLN6 (full English text not available).
Early onset or syndromic epilepsy v1.394 CLN6 Rebecca Foulger commented on gene: CLN6: PMID:31216804. Zhang et al. 2019 identify the pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy. 1 patient had a variant in CLN6 (full English text not avaialble).
Early onset or syndromic epilepsy v1.394 CLN6 Rebecca Foulger commented on gene: CLN6: Additional case in PMID:31029456 (Matsumoto et al., 2019) of Japanese boy with a homozygous C.794_976del variant p. (Ser265del) in CLN6. Symptoms include focal seizures.
Early onset or syndromic epilepsy v1.394 CLN6 Rebecca Foulger Publications for gene: CLN6 were set to 21549341
Early onset or syndromic epilepsy v1.377 CLN6 Rebecca Foulger Classified gene: CLN6 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.377 CLN6 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber based on Amber review by Tracy Lester and PMID:21549341 (Arsov et al., 2011) where seizures are a consistent feature across families.
Early onset or syndromic epilepsy v1.377 CLN6 Rebecca Foulger Gene: cln6 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.375 CLN6 Rebecca Foulger Mode of inheritance for gene: CLN6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.374 CLN6 Rebecca Foulger Publications for gene: CLN6 were set to
Early onset or syndromic epilepsy v1.191 CLN6 Rebecca Foulger Source Wessex and West Midlands GLH was added to CLN6.
Early onset or syndromic epilepsy v1.190 CLN6 Rebecca Foulger Source NHS GMS was added to CLN6.
Early onset or syndromic epilepsy v1.189 CLN6 Rebecca Foulger reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 CLN6 Tracy Lester reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: ; Publications: 21549341; Phenotypes: Ceroid lipofuscinosis neuronal, 6, 601780, Ceroid lipofuscinosis, neuronal Kufs type adult onset, 204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.13 CLN6 Louise Daugherty Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Early onset or syndromic epilepsy CLN6 Sarah Leigh Added gene to panel