Genomics England

SCN1A

sodium voltage-gated channel alpha subunit 1

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 6.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Arthrogryposis multiplex congenita, Dravet syndrome, OMIM:607208
Green in Ataxia and cerebellar anomalies - narrow panel 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 Dravet syndrome OMIM:607208, developmental and epileptic encephalopathy, 6 MONDO:0100079
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Dravet syndrome, familial hemiplegic migraine 3, several epilepsy, convulsion and migraine disorders.
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes SCN1A-RELATED SEIZURE DISORDERS 607208
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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Epilepsy, generalized, with febrile seizures plus, type 2 604403, Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208, Febrile seizures, familial, 3A 604403, Migraine, familial hemiplegic, 3 609634
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dravet syndrome, OMIM:607208, Arthrogryposis multiplex congenita
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes familial hemiplegic migraine 3, Familial febrile seziures 3A, 604403, Dravet syndrome, several epilepsy, convulsion and migraine disorders., Generalised epilepsy with febrile seizures type 2, 604403, Familial hemiplegic migraine 3, 609634, Epileptic encephalopathy 6, 607208
Green in Intellectual disability 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 Epilepsy, generalized, with febrile seizures plus, type 2, 604403Dravet syndrome, 607208Migraine, familial hemiplegic, 3, 609634Febrile seizures, familial, 3A, 604403, SCN1A-RELATED SEIZURE DISORDERS
Green in Paroxysmal central nervous system disorders R-numbers: R66 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208, Epilepsy, generalized, with febrile seizures plus, type 2, 604403, Migraine, familial hemiplegic, 3, 609634, several epilepsy, convulsion and migraine disorders