SCN3A

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green SCN3A in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.195

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Polymicrogyria
    • epileptic encephalopathy

    Green SCN3A in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Epilepsy, familial focal, with variable foci 4, MIM# 617935
    • Epileptic encephalopathy, early infantile, 62, MIM# 617938
    • Intellectual disability
    • Malformations of cortical development

    Green SCN3A 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, familial focal, with variable foci 4, MIM# 617935
    • Epileptic encephalopathy, early infantile, 62, MIM# 617938
    • Intellectual disability
    • Malformations of cortical development

    Green SCN3A in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.573

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

    Green SCN3A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Epilepsy, familial focal, with variable foci 4, MIM# 617935
    • Epileptic encephalopathy, early infantile, 62, MIM# 617938
    • Intellectual disability
    • Malformations of cortical development

    Green SCN3A in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Genetic Health Queensland
    Phenotypes
    • Epilepsy, familial focal, with variable foci 4, MIM# 617935
    • Epileptic encephalopathy, early infantile, 62, MIM# 617938
    • Intellectual disability
    • Malformations of cortical development

    Red SCN3A in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Epileptic encephalopathy, early infantile, 62, MIM# 617938