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  2. Intellectual_disability
  3. SCN1A
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Intellectual_disability

Gene: SCN1A

Amber List (moderate evidence)
SCN1A (sodium voltage-gated channel alpha subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 13 panels

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Details

Sources
  • Radboud University Medical Center, Nijmegen
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 2, 604403Dravet syndrome, 607208Migraine, familial hemiplegic, 3, 609634Febrile seizures, familial, 3A, 604403
OMIM
182389
Clinvar variants
Variants in SCN1A
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN1A was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN1A was added to Intellectual_disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen