SCN1A

sodium voltage-gated channel alpha subunit 1
OMIM: 182389, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green SCN1A in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.80	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Phenotypes familial hemiplegic migraine 3 Dravet syndrome several epilepsy, convulsion and migraine disorders.
Green SCN1A in Ataxia and cerebellar anomalies - narrow panel Version 4.59 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Dravet syndrome OMIM:607208 developmental and epileptic encephalopathy, 6 MONDO:0100079
Red SCN1A in Familial cerebral small vessel disease Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.17	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Literature Phenotypes Cerebral small vessel disease Dravet syndrome 607208 Epilepsy, generalized, with febrile seizures plus, type 2 604403 Febrile seizures, familial, 3A 604403 Migraine, familial hemiplegic, 3 609634
Red SCN1A in Autism Version 0.36	review	Not set	Sources Expert Review Red SFARI
Green SCN1A in Paroxysmal central nervous system disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London North GLH Wessex and West Midlands GLH 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
Green SCN1A in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.22 Latest signed off version: v5.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Arthrogryposis multiplex congenita Dravet syndrome, OMIM:607208
Red SCN1A in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes several epilepsy, convulsion and migraine disorders. familial hemiplegic migraine 3 Dravet syndrome
Green SCN1A in Fetal anomalies Version 3.154 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Dravet syndrome, OMIM:607208 Arthrogryposis multiplex congenita
Green SCN1A in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCN1A-RELATED SEIZURE DISORDERS 607208
Green SCN1A in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services UKGTN Expert Expert Review Green 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 SCN1A in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.524 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory 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 SCN1A in Hereditary ataxia with onset in adulthood Version 4.31 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 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
Red SCN1A in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS London North GLH Phenotypes Dravet syndrome several epilepsy, convulsion and migraine disorders. familial hemiplegic migraine 3
Green SCN1A in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green PanelApp London North GLH Phenotypes Dravet syndrome familial hemiplegic migraine 3 several epilepsy, convulsion and migraine disorders.
Green SCN1A in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 Migraine, familial hemiplegic, 3, 609634 Febrile seizures, familial, 3A, 604403