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Research panel - Severe Paediatric Disorders

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 13 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SCN1A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3) | Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 (3) | Febrile seizures, familial, 3A, 604403 (3) | Migraine, familial hemiplegic, 3, 609634 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:25 p.m.
Last Modified: 20 Feb 2020, 5:25 p.m.
Panel version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 2, 604403
  • Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208
  • Migraine, familial hemiplegic, 3, 609634
  • Febrile seizures, familial, 3A, 604403
OMIM
182389
Clinvar variants
Variants in SCN1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SCN1A were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Febrile seizures, familial, 3A, 604403; Migraine, familial hemiplegic, 3, 609634; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 for gene: SCN1A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Febrile seizures, familial, 3A, 604403; Migraine, familial hemiplegic, 3, 609634; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 for gene: SCN1A

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Febrile seizures, familial, 3A, 604403; Migraine, familial hemiplegic, 3, 609634; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 for gene: SCN1A

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Febrile seizures, familial, 3A, 604403; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208; Migraine, familial hemiplegic, 3, 609634; Epilepsy, generalized, with febrile seizures plus, type 2, 604403 for gene: SCN1A

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SCN1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Febrile seizures, familial, 3A, 604403; Migraine, familial hemiplegic, 3, 609634; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 for gene: SCN1A

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SCN1A.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SCN1A. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SCN1A was added gene: SCN1A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SCN1A was set to