PanelApp (test)
  1. Genes and Genomic Entities
  2. SCN2A:Ensemblv90

SCN2A:Ensemblv90

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

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green SCN2A in Alternating Hemiplegia and Hemiplegic Migraine


Level 2: Neurology and neurodevelopmental disorders
Version 0.61

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alternating hemiplegia of childhood MONDO:0016241, SCN2A-related

Green SCN2A in Angelman Rett like syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 11, MIM# 613721
  • Rett-like

Green SCN2A in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.233

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SCN2A in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 11 (DEE11), MIM# 613721

Green SCN2A in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia, type 9, MIM# 618924
  • Seizures, benign familial infantile, 3, MIM# 607745
  • Developmental and epileptic encephalopathy 11, MIM# 613721

Green SCN2A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Seizures, benign familial infantile, 3, MIM# 607745
    • Developmental and epileptic encephalopathy 11, MIM# 613721

    Green SCN2A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Developmental and epileptic encephalopathy 11, MIM# 613721

    Green SCN2A in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.144

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Tremors_Superpanel

    		•  0 reviews Unknown
    Sources
    • Royal Children's Hospital Neurology Department
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green SCN2A in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Early infantile epileptic encephalopathy 11, MIM# 613721

    Green SCN2A in Fetal anomalies


    Version 1.482

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Developmental and epileptic encephalopathy 11, MIM#613721

    Green SCN2A in Familial Generalised Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.15

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • GREP
    • Expert Review Green
    Phenotypes
    • Seizures, benign familial infantile, 3 607745
    • Epileptic encephalopathy, early infantile, 11 613721

    Red SCN2A in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Developmental and epileptic encephalopathy 11, MIM# 613721

    Green SCN2A in Alternating Hemiplegia and Hemiplegic Migraine


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Alternating hemiplegia of childhood MONDO:0016241, SCN2A-related

    Green SCN2A in Angelman Rett like syndromes


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Developmental and epileptic encephalopathy 11, MIM# 613721
    • Rett-like

    Green SCN2A in Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green SCN2A in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Developmental and epileptic encephalopathy 11 (DEE11), MIM# 613721

    Green SCN2A in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Seizures, benign familial infantile, 3, MIM# 607745
    • Developmental and epileptic encephalopathy 11, MIM# 613721

    Green SCN2A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Genetic Health Queensland
    • Expert Review Green
    Phenotypes
    • Developmental and epileptic encephalopathy 11, MIM# 613721

    Green SCN2A in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Royal Children's Hospital Neurology Department

    Green SCN2A in Familial Generalised Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • GREP
    Phenotypes
    • Seizures, benign familial infantile, 3 607745
    • Epileptic encephalopathy, early infantile, 11 613721