Molecular autopsy
Gene: SCN1B
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.
Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 31 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, 13 (615377); Brugada syndrome 5 (612838); Cardiac conduction defect, nonspecific (612838); Epilepsy, generalized, with febrile seizures plus, type 1 (604233); Epileptic encephalopathy, early infantile, 52 (617350)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source London South GLH was added to SCN1B.
Source North West GLH was added to SCN1B. Added phenotypes Cardiac conduction defect, nonspecific (612838); Atrial fibrillation, familial, 13 (615377); Epileptic encephalopathy, early infantile, 52 (617350); Brugada syndrome 5 (612838); Epilepsy, generalized, with febrile seizures plus, type 1 (604233) for gene: SCN1B Publications for gene SCN1B were changed from to 25253298; 27761167
Added phenotypes Nonspecific Cardiac Conduction Defect; Cardiac conduction defect, nonspecific for gene: SCN1B
gene: SCN1B was added gene: SCN1B was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN1B were set to Brugada syndrome 5