Brugada syndrome and cardiac sodium channel disease
Gene: SCN2B
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
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
Comment when marking as ready: Not on Manchester diagnostic panelCreated: 11 Feb 2016, 12:22 p.m.
Phenotypes for gene: SCN2B were changed from to Brugada syndrome, MONDO:0015263
Gene: scn2b has been classified as Red List (Low Evidence).
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)
This proposed gene was validated and added to this panel
This gene has been removed from the panel.
SCN2B was added to Brugada syndromepanel. Sources: Oxford Medical Genetics Laboratory
SCN2B was created by OxfordGenetics