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Genetic Epilepsy

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 14 panels

4 reviews

Sangavi Sivagnanasundram (Melbourne Health)

DEFINITIVE by ClinGen Epilepsy GCEP for generalized epilepsy with febrile seizures plus on 06/09/2019 - https://search.clinicalgenome.org/CCID:006064

DEFINITIVE by ClinGen Epilepsy GCEP for Dravet Syndrome on 20/08/2019 - https://search.clinicalgenome.org/CCID:006065

STRONG by ClinGen Epilepsy GCEP for developmental and epileptic encephalopathy on 25/10/2019 - https://search.clinicalgenome.org/CCID:006063

MODERATE by ClinGen Epilepsy GCEP for familial hemiplegic migraine on 14/09/2021 - https://search.clinicalgenome.org/CCID:006066
Created: 22 Apr 2024, 1:39 a.m. | Last Modified: 22 Apr 2024, 1:39 a.m.
Panel Version: 0.2599

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
generalized epilepsy with febrile seizures plus (MONDO:0018214); Dravet syndrome (MONDO:0100135); developmental and epileptic encephalopathy (MONDO:0100062); familial hemiplegic migraine (MONDO:0000700)

Arina Puzriakova (Genomics England)

I don't know

Note SCN1A is a well-established cause of Dravet syndrome, MIM# 607208
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PMID: 32928894 (2020) - De novo missense variants in SCN1A (p.Leu893Phe, p.Ala989Thr, p.Ile236Thr) were identified in three unrelated patients with AMC which was diagnosed from the second trimester of pregnancy. One patient developed intractable epilepsy from birth and died at 21 days, while the other two pregnancies were terminated. No functional studies of the variants or patient cells were performed.

To my knowledge, this is currently the only publication reporting an association between SCN1A variants and AMC.
Created: 2 Oct 2020, 4:13 p.m. | Last Modified: 2 Oct 2020, 4:13 p.m.
Panel Version: 0.4742

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

Phenotypes
Arthrogryposis multiplex congenita

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, generalized, with febrile seizures plus, type 2 604403; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208; Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317; Febrile seizures, familial, 3A 604403

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

> 3 de novo mutation carriers with evidence of low-level parental mosaicism
Mutations in pore regions result in more severe phenotypes
Created: 20 Apr 2020, 2:59 a.m. | Last Modified: 20 Apr 2020, 2:59 a.m.
Panel Version: 0.2362

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dravet Syndrome; Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome; Febrile seizures

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
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 2 604403
  • Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208
  • Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317
  • Febrile seizures, familial, 3A 604403
OMIM
182389
Clinvar variants
Variants in SCN1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCN1A were set to 30368457; 12754708; 25754450; 32928894

24 Apr 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCN1A were set to

19 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCN1A were changed from Epilepsy, generalized, with febrile seizures plus, type 2 604403; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208; Febrile seizures, familial, 3A 604403 to Epilepsy, generalized, with febrile seizures plus, type 2 604403; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208; Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317; Febrile seizures, familial, 3A 604403

21 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn1a has been classified as Green List (High Evidence).

21 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCN1A were changed from to Epilepsy, generalized, with febrile seizures plus, type 2 604403; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208; Febrile seizures, familial, 3A 604403

21 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SCN1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCN1A was added gene: SCN1A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SCN1A was set to Unknown