Brugada syndrome and cardiac sodium channel disease
Gene: SCN2BEnsemblGeneIds (GRCh38): ENSG00000149575
EnsemblGeneIds (GRCh37): ENSG00000149575
OMIM: 601327, Gene2Phenotype
SCN2B is in 3 panels
4 reviews
Rebecca Whittington (South West GLH)
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)
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/10159Created: 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 panelCreated: 11 Feb 2016, 12:22 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SCN2B were changed from to Brugada syndrome, MONDO:0015263
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: scn2b has been classified as Red List (Low Evidence).
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)
Approved Gene
Caroline Wright (Genomics England Curator)This proposed gene was validated and added to this panel
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been removed from the panel.
Added New Source
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)SCN2B was added to Brugada syndromepanel. Sources: Oxford Medical Genetics Laboratory
Created
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)SCN2B was created by OxfordGenetics