SCN1A

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

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green SCN1A in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.79

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.

Amber SCN1A in Ataxia and cerebellar anomalies - narrow panel


Version 2.300
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Dravet syndrome OMIM:607208
    • developmental and epileptic encephalopathy, 6 MONDO:0100079
    Tags
    • Q2_21_rating

    Red SCN1A in Familial cerebral small vessel disease

    Level 3: Arteriopathies
    Level 2: Cardiovascular disorders
    Version 1.13

    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 0.22

    review Not set
    Sources
    • Expert Review Red
    • SFARI

    Green SCN1A in Paroxysmal central nervous system disorders


    Version 1.44
    Latest signed off version: v1.2 (27 Feb 2020)

    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 3.161
    Latest signed off version: v3.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Arthrogryposis multiplex congenita
    • Dravet syndrome, OMIM:607208

    Red SCN1A in Neurodegenerative disorders - adult onset


    Version 2.275
    Latest signed off version: v2.178 (5 Aug 2021)

    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 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    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 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    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 Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.563
    Latest signed off version: v2.2 (13 Feb 2020)

    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

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 - adult onset


    Version 2.158
    Latest signed off version: v2.13 (6 Oct 2020)

    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 movement disorder


    Version 1.170
    Latest signed off version: v1.121 (5 Aug 2021)

    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 or chorea or related movement disorder


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

    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 1.127

    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