SCN2A

sodium voltage-gated channel alpha subunit 2
OMIM: 182390
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic ataxia, type 9, MIM# 618924, MONDO:0030064, Developmental and epileptic encephalopathy 11, MIM# 613721, MONDO:0013388
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NONSPECIFIC SEVERE ID, BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES 248968, INFANTILE EPILEPTIC ENCEPHALOPATHY
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epileptic encephalopathy, early infantile, 11 613721, Seizures, benign familial infantile, 3 607745
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NONSPECIFIC SEVERE ID, INFANTILE EPILEPTIC ENCEPHALOPATHY, BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Seizures, benign familial infantile, 3, 607745Epileptic encephalopathy, early infantile, 11, 613721, NONSPECIFIC SEVERE ID