1. Genes and Genomic Entities
  2. SCN2A

SCN2A

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red SCN2A in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.15
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • Epileptic encephalopathy, early infantile, 11
    • Seizures, benign familial infantile, 3
    Green SCN2A in Ataxia and cerebellar anomalies - narrow panel


    Level 2: Neurology
    Version 8.67
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Episodic ataxia, type 9, MIM# 618924, MONDO:0030064
    • Developmental and epileptic encephalopathy 11, MIM# 613721, MONDO:0013388
    Red SCN2A in Intracerebral calcification disorders

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.36

    		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


    Level 2: Fetal (including NIPD)
    Version 6.157
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 6.426
    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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NONSPECIFIC SEVERE ID
    • BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES 248968
    • INFANTILE EPILEPTIC ENCEPHALOPATHY
    Green SCN2A in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.147
    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, 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 2: Developmental disorders
    Version 9.304
    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
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Seizures, benign familial infantile, 3, 607745Epileptic encephalopathy, early infantile, 11, 613721
    • NONSPECIFIC SEVERE ID