1. Genes and Genomic Entities
  2. SCN3A

SCN3A

sodium voltage-gated channel alpha subunit 3
OMIM: 182391, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green SCN3A in Malformations of cortical development


Level 2: Neurology
Version 7.30
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polymicrogyria, MONDO:0000087
    • malformations of cortical development
    • epilepsy, MONDO:0005027
    • Developmental and epileptic encephalopathy 62, OMIM:617938
    Green SCN3A in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Epileptic encephalopathy, early infantile, 62, OMIM:617938
    • Epilepsy, familial focal, with variable foci 4, OMIM:617935
    • Intellectual disability
    • Malformations of cortical development
    Green SCN3A in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Focal epilepsy
    Green SCN3A in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Epilepsy, familial focal, with variable foci 4 617935
    • Epileptic encephalopathy, early infantile, 62 617938
    Green SCN3A in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 62, 617938
    • intellectual disability