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Genetic epilepsy syndromes

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

8 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AD Dravet syndrome, >80% of cases. Common cause of epilepsy (also assoc with AD generalised epilepsy with febrile seizures, AD febrile seizures and AD familial hemiplegic migraine).
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, generalized, with febrile seizures plus,604403; Epileptic encephalopathy, early infantile, (Dravet syndrome),607208; Febrile seizures, familial,604403; Migraine, familial hemiplegic,609634

Publications

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A

Publications

  • Claes et al (2001) Am J Hum Genet 68: 1327_1332
  • Escayg et al (2000) Nature Genet 24: 343-345

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

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A

Publications

  • Claes et al (2001) Am J Hum Genet 68: 1327_1332
  • Escayg et al (2000) Nature Genet 24: 343-345

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

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A

Publications

  • Claes et al (2001) Am J Hum Genet 68: 1327_1332
  • Escayg et al (2000) Nature Genet 24: 343-345

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

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A

Publications

  • Claes et al (2001) Am J Hum Genet 68: 1327 1332
  • Escayg et al (2000) Nature Genet 24: 343-345

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

Richard Scott (Genomics England Curator)

Green List (high evidence)

Variable phenotype, which can include focal epilepsy
Created: 1 Feb 2016, 11:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
607208

Publications

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

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Confirmed DD gene and all 4 reviewers agree this should be green. Mode of inheritance and loss-of-function mechanism confirmed.
Created: 21 Jan 2016, 11:50 a.m.
Comment on mode of inheritance: Confirmed, and not on imprinted gene list.
Created: 21 Jan 2016, 11:49 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • UKGTN
  • Expert
  • Expert Review Green
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 2 604403
  • Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208
  • Febrile seizures, familial, 3A 604403
  • Migraine, familial hemiplegic, 3 609634
OMIM
182389
Clinvar variants
Variants in SCN1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SCN1A.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SCN1A.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to SCN1A. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SCN1A. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for SCN1A were set to 11359211; 10742094

4 Apr 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SCN1A were set to Epilepsy, generalized, with febrile seizures plus, type 2 604403; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208; Febrile seizures, familial, 3A 604403; Migraine, familial hemiplegic, 3 609634

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SCN1A was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

SCN1A was created by Sarah Leigh