Genomics England
GMS Panels
Panels
Genes and Entities

SCN1B

sodium voltage-gated channel beta subunit 1
OMIM: 600235
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 604233, BRUGADA SYNDROME 5 612838
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 52, OMIM:617350 (AR), Generalized epilepsy with febrile seizures plus, type 1, OMIM:604233 (AD)