Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Early onset or syndromic epilepsy v9.21 KCNB1 Ida Ertmanska Publications for gene: KCNB1 were set to Torkamani et al (2014) Ann. Neurol. 76: 529-540, 2014
Early onset or syndromic epilepsy v9.20 KCNB1 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype updated.
Early onset or syndromic epilepsy v9.20 KCNB1 Ida Ertmanska Phenotypes for gene: KCNB1 were changed from Epileptic encephalopathy, early infantile, 26 to Developmental and epileptic encephalopathy 26, OMIM:616056; developmental and epileptic encephalopathy, 26, MONDO:0014477
Early onset or syndromic epilepsy v1.191 KCNB1 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNB1.
Early onset or syndromic epilepsy v1.190 KCNB1 Rebecca Foulger Source NHS GMS was added to KCNB1.
Early onset or syndromic epilepsy v1.189 KCNB1 Rebecca Foulger reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 KCNB1 Tracy Lester reviewed gene: KCNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25164438, 29264397 ; Phenotypes: Epileptic encephalopathy, 616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy KCNB1 Sarah Leigh Added gene to panel