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  3. SCN1B
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Progressive cardiac conduction disease

Gene: SCN1B

Amber List (moderate 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

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. Promoted from Red to Amber as the group has agreed that this gene should be Amber on this panel.
Created: 2 Dec 2019, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
Created: 2 Dec 2019, 10:38 a.m.
Last Modified: 2 Dec 2019, 10:38 a.m.
Panel version: 0.30

James Eden (Manchester)

I don't know

Limited association with conduction disease in the literature.
Created: 25 Sep 2019, 2:55 p.m. | Last Modified: 25 Sep 2019, 2:55 p.m.
Panel Version: 0.28

Mode of inheritance
Unknown

Phenotypes
Cardiac conduction defect, nonspecific 612838

Publications

Created: 25 Sep 2019, 2:55 p.m.
Last Modified: 25 Sep 2019, 2:55 p.m.
Panel version: 0.28

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

I don't know

Some variants described in literature, but not enough to rate this green at the moment
Created: 23 Sep 2019, 1:37 p.m. | Last Modified: 23 Sep 2019, 1:37 p.m.
Panel Version: 0.28

Publications

Created: 23 Sep 2019, 1:37 p.m.
Last Modified: 23 Sep 2019, 1:37 p.m.
Panel version: 0.28

Rebecca Whittington (South West GLH)

I don't know

Cardiac conduction defect, nonspecific (612838)
Created: 25 Mar 2019, 4:30 p.m.
Pubmed: 25426816. Encodes beta1 subunit of Nav1.5. Variants identified in families with conduction alterations (and some cases Brugada). All variants found to decrease Nav1.5 - mediated channel in cellular expression system compared to controls. HGMD - 2 DM variants associated with PCCD on HGMD, however 1 reclassified as a VUS. Functional studies 28878239.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 0.18

Ellen McDonagh (Genomics England Curator)

I don't know

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.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.14

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • South West GLH
  • London South GLH
Phenotypes
  • Cardiac conduction defect, nonspecific, OMIM:612838
  • Brugada syndrome 5, OMIM:612838
  • Atrial fibrillation, familial, 13, OMIM:615377
OMIM
600235
Clinvar variants
Variants in SCN1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SCN1B were changed from Cardiac conduction defect, nonspecific, OMIM:612838 to Cardiac conduction defect, nonspecific, OMIM:612838; Brugada syndrome 5, OMIM:612838; Atrial fibrillation, familial, 13, OMIM:615377

2 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SCN1B were changed from Cardiac conduction defect, nonspecific 612838 to Cardiac conduction defect, nonspecific, OMIM:612838

2 Dec 2019, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SCN1B were changed from to Cardiac conduction defect, nonspecific 612838

2 Dec 2019, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SCN1B were set to

2 Dec 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to SCN1B. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

21 Feb 2019, Gel status: 1

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 to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: SCN1B was added gene: SCN1B was added to Progressive cardiac conduction disease. Sources: London South GLH Mode of inheritance for gene: SCN1B was set to