Brugada syndrome and cardiac sodium channel disease
Gene: SCN3BComment on phenotypes: This gene is also associated with Atrial fibrillation, familial, 16 (613120)Created: 2 Mar 2021, 12:01 p.m. | Last Modified: 2 Mar 2021, 12:01 p.m.
Panel Version: 2.25
Atrial fibrillation, familial, 16 (OMIM 613120), Brugada syndrome 7 (OMIM 613120)Created: 25 Mar 2019, 4:30 p.m.
Literature evidence including functional studies. PMID:20558140. https://www.ncbi.nlm.nih.gov/pubmed/21051419?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/21051419?dopt=AbstractCreated: 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
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/10160Created: 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
Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 7 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, 16 (613120); Brugada syndrome 7 (613120)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: On Manchester diagnostic panel; multiple unrelated patient in OMIM (though conflicting reports of pathogenicity)Created: 11 Feb 2016, 11:24 a.m.
L10P variant reported in isolated male case with BS. L10P = 56 / 64583 (0.09 percentage) European individuals on gnomAD. Therefore no supportive evidence.Created: 25 Jan 2019, 1:15 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SCN3B were changed from Brugada syndrome 7; Atrial fibrillation, familial, 16 (613120); Brugada syndrome 7 (613120) to Brugada syndrome 7, OMIM:613120
Gene: scn3b has been classified as Red List (Low Evidence).
Source South West GLH was added to SCN3B. Mode of inheritance for gene SCN3B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to SCN3B.
Source North West GLH was added to SCN3B. Added phenotypes Atrial fibrillation, familial, 16 (613120); Brugada syndrome 7 (613120) for gene: SCN3B Publications for gene SCN3B were changed from to 23257389; 27761167 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene SCN3B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SCN3B was added to Brugada syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Model of inheritance for gene SCN3B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SCN3B was added to Brugada syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Model of inheritance for gene SCN3B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SCN3B was added to Brugada syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
Model of inheritance for gene SCN3B was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SCN3B was added to Brugada syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list
SCN3B was added to Brugada syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert list