SCN2A

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red SCN2A in Familial Genetic Generalised Epilepsies

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 1.23

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Benign Familial Neonatal Infantile Seizures

Green SCN2A in Epileptic encephalopathy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 1.136

5 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Early Infantile Epileptic Encephalopathy, Autosomal Dominant
  • Seizures, benign familial infantile, 3
  • Epileptic encephalopathy, early infantile, 11
  • BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES

Green SCN2A in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.70

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Seizures, benign familial infantile, 3, 607745Epileptic encephalopathy, early infantile, 11, 613721
  • NONSPECIFIC SEVERE ID