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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 604233, BRUGADA SYNDROME 5 612838
R-numbers: R59
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Epilepsy, generalized, with febrile seizures plus, type 1 604233 AD, Epileptic encephalopathy, early infantile, 52 617350 AR