SCN2A

sodium voltage-gated channel alpha subunit 2
OMIM: 182390
PanelMode of inheritanceDetails
4 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
NONSPECIFIC SEVERE ID, BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES 248968, INFANTILE EPILEPTIC ENCEPHALOPATHY
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NONSPECIFIC SEVERE ID, INFANTILE EPILEPTIC ENCEPHALOPATHY, BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epileptic encephalopathy, early infantile, 11 613721, Seizures, benign familial infantile, 3 607745
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Seizures, benign familial infantile, 3, 607745Epileptic encephalopathy, early infantile, 11, 613721, NONSPECIFIC SEVERE ID