SCN2A

sodium voltage-gated channel alpha subunit 2
OMIM: 182390, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red SCN2A in White matter disorders and cerebral calcification - narrow panel


Version 1.32
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • Epileptic encephalopathy, early infantile, 11
    • Seizures, benign familial infantile, 3

    No list SCN2A in Ataxia and cerebellar anomalies - narrow panel


    Version 2.65
    Latest signed off version: v2.64 (16 Dec 2021)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 11, MIM# 613721

    Green SCN2A in Autism


    Version 0.27

    review Not set
    Sources
    • Expert Review Green
    • SFARI
    Phenotypes
    • EP, ASD, DD/NDD, EPS, ADHD, ID

    Red SCN2A in Intracerebral calcification disorders

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 11
    • Seizures, benign familial infantile, 3

    Green SCN2A in Fetal anomalies


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • NONSPECIFIC SEVERE ID
    • INFANTILE EPILEPTIC ENCEPHALOPATHY
    • BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES

    Green SCN2A in DDG2P


    Version 2.21
    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
    • NONSPECIFIC SEVERE ID
    • BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES 248968
    • INFANTILE EPILEPTIC ENCEPHALOPATHY

    Green SCN2A in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    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
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert
    • Expert Review Green
    Phenotypes
    • Epileptic encephalopathy, early infantile, 11 613721
    • Seizures, benign familial infantile, 3 607745

    Green SCN2A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    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
    Phenotypes
    • Seizures, benign familial infantile, 3, 607745Epileptic encephalopathy, early infantile, 11, 613721
    • NONSPECIFIC SEVERE ID

    Green SCN2A in Severe Paediatric Disorders


    Version 1.66

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 11, 613721
    • Seizures, benign familial infantile, 3, 607745

    Green SCN2A in NewbornFullV1


    Version 0.1

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green