Genomics England

SCN2A

sodium voltage-gated channel alpha subunit 2

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.3	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 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes NONSPECIFIC SEVERE ID, BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES 248968, INFANTILE EPILEPTIC ENCEPHALOPATHY
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 6.9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Epileptic encephalopathy, early infantile, 11 613721, Seizures, benign familial infantile, 3 607745
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes NONSPECIFIC SEVERE ID, INFANTILE EPILEPTIC ENCEPHALOPATHY, BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Seizures, benign familial infantile, 3, 607745Epileptic encephalopathy, early infantile, 11, 613721, NONSPECIFIC SEVERE ID