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  2. Intellectual_disability
  3. SCN2A
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Intellectual_disability

Gene: SCN2A

Red List (low evidence)
SCN2A (sodium voltage-gated channel alpha subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000136531
EnsemblGeneIds (GRCh37): ENSG00000136531
OMIM: 182390, Gene2Phenotype
SCN2A is in 7 panels

0 reviews

Details

Sources
  • Known gene (Grozeva et al, 2015)
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Seizures, benign familial infantile, 3, 607745Epileptic encephalopathy, early infantile, 11, 613721
  • Intellectual disability
OMIM
182390
Clinvar variants
Variants in SCN2A
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN2A was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN2A was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen