SCN1A

sodium voltage-gated channel alpha subunit 1
OMIM: 182389
PanelMode of inheritanceDetails
8 panels
R-numbers: R83
Signed-off version 4.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Arthrogryposis multiplex congenita, Dravet syndrome, OMIM:607208
R-numbers: R57
Signed-off version 2.6
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 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SCN1A-RELATED SEIZURE DISORDERS 607208
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dravet syndrome, OMIM:607208, Arthrogryposis multiplex congenita
R-numbers: R59
Signed-off version 3.1
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
R-numbers: R54
Signed-off version 3.1
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
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
R-numbers: R66
Signed-off version 2.1
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