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Genetic Epilepsies with Febrile Seizures Plus (GEFS+)

Gene: SCN1A

Green List (high evidence)

SCN1A (sodium voltage-gated channel alpha subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 16 panels

1 review

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
604403

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement exclusion criteria
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 2
  • Febrile seizures, familial, 3A
  • Generalized Epilepsy With Febrile Seizures Plus, Type 2
  • GEFSP2
  • 604403
OMIM
182389
Clinvar variants
Variants in SCN1A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SCN1A were set to Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A; Generalized Epilepsy With Febrile Seizures Plus, Type 2; GEFSP2; 604403

24 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SCN1A were set to 10742094

24 Aug 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SCN1A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

8 May 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 May 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN1A was added to Genetic Epilepsy with Febrile Seizures plus (GEFS+)panel. Sources: Eligibility statement exclusion criteria

6 May 2015, Gel status: 2

Upload gene information

Eik Haraldsdottir (Genomics England)

SCN1A was added to Genetic Epilepsy with Febrile Seizures plus (GEFS+)panel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Eligibility Statements for GeL

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

SCN1A was added to Genetic Epilepsy with Febrile Seizures plus (GEFS+)panel. Sources: Radboud University Medical Center, Nijmegen

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

SCN1A was added to Genetic Epilepsy with Febrile Seizures plus (GEFS+)panel. Sources: UKGTN