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Early onset or syndromic epilepsy v1.191 KCNT1 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNT1.
Early onset or syndromic epilepsy v1.190 KCNT1 Rebecca Foulger Source NHS GMS was added to KCNT1.
Early onset or syndromic epilepsy v1.189 KCNT1 Rebecca Foulger reviewed gene: KCNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 KCNT1 Tracy Lester reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 23086397, 26122718; Phenotypes: Epilepsy, nocturnal frontal lobe, 615005, Epileptic encephalopathy, early infantile, 614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy KCNT1 Sarah Leigh Added gene to panel