Brugada syndrome

Gene: SCN1B

Red List (low evidence)

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

5 reviews

Rebecca Whittington (South West GLH)

Green List (high evidence)

Atrial fibrillation, familial, 13 (OMIM 615377), Brugada syndrome 5 (OMIM 612838), Cardiac conduction defect, nonspecific (OMIM 612838), Epilepsy, generalized, with febrile seizures plus, type 1 (OMIM 604233), Epileptic encephalopathy, early infantile, 52 (OMIM 617350 - AR).
Created: 25 Mar 2019, 4:30 p.m.
Literature evidence includes cosegregation and functional evidence. PMID:18464934. PMID:25253298. PMID:28878239
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Due to new expert reviews and disputed evidence for this gene-disease causation, this gene has been demoted from Green to Red.
Created: 27 Feb 2019, 10 a.m.
This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10158
Created: 20 Feb 2019, 2:47 p.m.
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

Mode of inheritance
Disputed

Phenotypes
Brugada syndrome 1; MONDO_0011001

James Eden (Manchester)

Red List (low evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 31 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: disputed association with Brugada syndrome (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

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

Phenotypes
Atrial fibrillation, familial, 13 (615377); Brugada syndrome 5 (612838); Cardiac conduction defect, nonspecific (612838); Epilepsy, generalized, with febrile seizures plus, type 1 (604233); Epileptic encephalopathy, early infantile, 52 (617350)

Publications

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

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On Manchester diagnostic panel and DDG2P
Created: 11 Feb 2016, 11:22 a.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Small number of variants reported to be pathogenic on ClinVar detected in an array of different patient cohorts including AF BS epilepsy cardiomyopathy conduction defects and epileptic encephalopathy. PMID 29758173 reports lack of genotype or phenotype correlations in families with BS or SADS with previously thought to be pathogenic variants in SCN1B.
Created: 25 Jan 2019, 1:15 p.m.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West GLH
  • London South GLH
  • North West GLH
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cardiac conduction defect, nonspecific (612838)
  • Atrial fibrillation, familial, 13 (615377)
  • Brugada syndrome 5
  • Brugada syndrome 5 (612838)
  • Epileptic encephalopathy, early infantile, 52 (617350)
  • Epilepsy, generalized, with febrile seizures plus, type 1 (604233)
OMIM
600235
Clinvar variants
Variants in SCN1B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Feb 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: scn1b has been classified as Red List (Low Evidence).

21 Feb 2019, Gel status: 4

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to SCN1B. Mode of inheritance for gene SCN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to SCN1B.

14 Feb 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to SCN1B. Added phenotypes Cardiac conduction defect, nonspecific (612838); Atrial fibrillation, familial, 13 (615377); Epileptic encephalopathy, early infantile, 52 (617350); Brugada syndrome 5 (612838); Epilepsy, generalized, with febrile seizures plus, type 1 (604233) for gene: SCN1B Publications for gene SCN1B were changed from to 25253298; 27761167 Rating Changed from Green List (high evidence) to Green List (high evidence)

11 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SCN1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN1B was added to Brugada syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list

13 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SCN1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN1B was added to Brugada syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list

13 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SCN1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN1B was added to Brugada syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SCN1B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN1B was added to Brugada syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN1B was added to Brugada syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list