Brugada syndrome

Gene: SCN2B

Red List (low evidence)

SCN2B (sodium voltage-gated channel beta subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000149575
EnsemblGeneIds (GRCh37): ENSG00000149575
OMIM: 601327, Gene2Phenotype
SCN2B is in 3 panels

4 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Atrial fibrillation, familial, 14 (OMIM 615378)
Created: 25 Mar 2019, 4:30 p.m.
Only a couple of publications - some frequency associated with the variants described. Variant described in the Riuro paper rare strong BI and some functional evidence. But Watanabe variants look less convincing.PMID:19808477. https://www.ncbi.nlm.nih.gov/pubmed/23559163?dopt=Abstract.
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

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

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/10159
Created: 20 Feb 2019, 2:47 p.m.

Mode of inheritance
Disputed

Phenotypes
Brugada syndrome 1; MONDO_0011001

Caroline Wright (Genomics England Curator)

Comment when marking as ready: Not on Manchester diagnostic panel
Created: 11 Feb 2016, 12:22 p.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
Phenotypes
  • Brugada syndrome, MONDO:0015263
OMIM
601327
Clinvar variants
Variants in SCN2B
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SCN2B were changed from to Brugada syndrome, MONDO:0015263

27 Feb 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: scn2b has been classified as Red List (Low Evidence).

21 Feb 2019, Gel status: 0

Added New Source, Set mode of inheritance, Status Update

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to SCN2B. Mode of inheritance for gene SCN2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rating Changed from Red List (low evidence) to No List (delete)

11 Feb 2016, Gel status: 0

Approved Gene

Caroline Wright (Genomics England Curator)

This proposed gene was validated and added to this panel

11 Feb 2016, Gel status: 0

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been removed from the panel.

6 Jan 2016, Gel status: 0

Added New Source

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

SCN2B was added to Brugada syndromepanel. Sources: Oxford Medical Genetics Laboratory

6 Jan 2016, Gel status: 0

Created

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

SCN2B was created by OxfordGenetics