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DDG2P

Gene: SCN1B

Green List (high evidence)
SCN1B (sodium voltage-gated channel beta subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000105711
EnsemblGeneIds (GRCh37): ENSG00000105711
OMIM: 600235, Gene2Phenotype
SCN1B is in 8 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SCN1B-related generalized epilepsy with febrile seizures plus or temporal lobe epilepsy are definitive, monoallelic_autosomal and undetermined (PMIDs: 12011299, 14504340, 17020904, 19522081, 21040232, 27277800, 29992740, 30660056, 36291443, 9697698). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01480. The DDG2P confidence category, allelic requirement and molecular mechanism for SCN1B-related developmental and epileptic encephalopathy are definitive, biallelic_autosomal and undetermined non-loss-of-function (PMIDs: 19710327, 23148524, 28218389, 31465153, 31709768, 33901312). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03722.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease BRUGADA SYNDROME 5, OMIM:612838 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMIDs: 17020904;9697698;18464934;12011299).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
SCN1B-related developmental and epileptic encephalopathy; MONDO:0033361; SCN1B-related generalized epilepsy with febrile seizures plus or temporal lobe epilepsy; MONDO:0011416; BRUGADA SYNDROME 5, OMIM:612838; OMIM:604233.0; OMIM:617350.0

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders).
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 604233
  • BRUGADA SYNDROME 5 612838
OMIM
600235
Clinvar variants
Variants in SCN1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene SCN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Oct 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: SCN1B were updated from 18464934 to 17020904; 9697698; 12011299; 18464934

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes BRUGADA SYNDROME 5 612838 for gene: SCN1B Publications for gene SCN1B were changed from 9697698 to 18464934

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SCN1B was added gene: SCN1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN1B were set to 9697698 Phenotypes for gene: SCN1B were set to EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 604233