22 Jan 2024
Early onset or syndromic epilepsy v4.146
SCN1B
Arina Puzriakova Phenotypes for gene: SCN1B were changed from Epilepsy, generalized, with febrile seizures plus, type 1 604233 AD; Epileptic encephalopathy, early infantile, 52 617350 AR to Developmental and epileptic encephalopathy 52, OMIM:617350 (AR); Generalized epilepsy with febrile seizures plus, type 1, OMIM:604233 (AD)
22 Jan 2024
Early onset or syndromic epilepsy v4.145
SCN1B
Arina Puzriakova Publications for gene: SCN1B were set to 12011299; 16205844; 9697698
06 Aug 2019
Early onset or syndromic epilepsy v1.191
SCN1B
Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN1B.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
SCN1B
Rebecca Foulger Source NHS GMS was added to SCN1B.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
SCN1B
Rebecca Foulger reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
SCN1B
Tracy Lester reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 23148524, 19710327, 17020904 ; Phenotypes: Atrial fibrillation, familial,615377, Brugada syndrome,612838, Cardiac conduction defect, nonspecific,612838, Epilepsy, generalized, with febrile seizures plus, type 1,604233, Epileptic encephalopathy, early infantile, 52,617350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
04 Apr 2018
Early onset or syndromic epilepsy
SCN1B
Sarah Leigh Added gene to panel