SCN1A

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

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green SCN1A in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.12

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Dravet syndrome, MIM# 607208
    • Epilepsy, Paekinsonism

    Green SCN1A in Alternating Hemiplegia and Hemiplegic Migraine


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.57

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Migraine, familial hemiplegic, 3, MIM# 609634

    Green SCN1A in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.417

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Arthrogryposis multiplex congenita
    • Dravet syndrome, MIM# 607208

    Green SCN1A in Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.205

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SCN1A in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 6B, non-Dravet (OMIM 619317)
    • Dravet syndrome (OMIM 607208)

    Green SCN1A in Brain Channelopathies


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.3

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dravet syndrome 607208
    • Epilepsy, generalized, with febrile seizures plus, type 2 604403
    • Febrile seizures, familial, 3A 604403
    • Migraine, familial hemiplegic, 3 609634

    Green SCN1A in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208
    • Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317
    • Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome
    • Febrile seizures
    • Arthrogryposis multiplex congenita

    Green SCN1A in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Epilepsy, generalized, with febrile seizures plus, type 2 604403
    • Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208
    • Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317
    • Febrile seizures, familial, 3A 604403

    Green SCN1A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review Unknown
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317

    Green SCN1A in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.141

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Tremors_Superpanel
  • review Unknown
    Sources
    • Royal Children's Hospital Neurology Department
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green SCN1A in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208

    Green SCN1A in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Dravet syndrome

    Green SCN1A in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Dravet syndrome, OMIM:607208
    • Arthrogryposis multiplex congenita

    Red SCN1A in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM#604403
    • Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317