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  3. SCN1A
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Brain Channelopathies

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 29 Dec 2020, 10:12 p.m. | Last Modified: 29 Dec 2020, 10:12 p.m.
Panel Version: 0.66

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dravet syndrome 607208; Epilepsy, generalized, with febrile seizures plus, type 2 604403; Febrile seizures, familial, 3A 604403; Migraine, familial hemiplegic, 3 609634

Created: 29 Dec 2020, 10:12 p.m.
Last Modified: 29 Dec 2020, 10:12 p.m.
Panel version: 0.66

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dravet syndrome 607208
  • Epilepsy, generalized, with febrile seizures plus, type 2 604403
  • Febrile seizures, familial, 3A 604403
  • Migraine, familial hemiplegic, 3 609634
OMIM
182389
Clinvar variants
Variants in SCN1A
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 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).

29 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCN1A were changed from to Dravet syndrome 607208; Epilepsy, generalized, with febrile seizures plus, type 2 604403; Febrile seizures, familial, 3A 604403; Migraine, familial hemiplegic, 3 609634

29 Dec 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 Channelopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SCN1A was set to Unknown