SCN1B

sodium voltage-gated channel beta subunit 1
OMIM: 600235, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber SCN1B in Progressive cardiac conduction disease Version 2.6 Latest signed off version: v2.2 (22 Mar 2023) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber South West GLH London South GLH Phenotypes Cardiac conduction defect, nonspecific, OMIM:612838 Brugada syndrome 5, OMIM:612838 Atrial fibrillation, familial, 13, OMIM:615377
Red SCN1B in Short QT syndrome Version 3.10 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources North West GLH Brugada syndrome (Version 1.7) Phenotypes Cardiac conduction defect, nonspecific, OMIM:612838 Brugada syndrome 5, OMIM:612838 Atrial fibrillation, familial, 13, OMIM:615377
Amber SCN1B in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.85	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources South West GLH Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Cardiac conduction defect, nonspecific, OMIM:612838 Brugada syndrome 5, OMIM:612838 Atrial fibrillation, familial, 13, OMIM:615377
Red SCN1B in Brugada syndrome and cardiac sodium channel disease Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 3.8 Latest signed off version: v3.2 (22 Mar 2023) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red South West GLH London South GLH North West GLH Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Cardiac conduction defect, nonspecific, OMIM:612838 Brugada syndrome 5, OMIM:612838 Atrial fibrillation, familial, 13, OMIM:615377 Tags disputed
Red SCN1B in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 BRUGADA SYNDROME 5
Green SCN1B in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 604233 BRUGADA SYNDROME 5 612838
Green SCN1B in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Expert Expert Review Green Phenotypes Developmental and epileptic encephalopathy 52, OMIM:617350 (AR) Generalized epilepsy with febrile seizures plus, type 1, OMIM:604233 (AD)
Amber SCN1B in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Developmental and epileptic encephalopathy 52, OMIM:617350 Developmental and epileptic encephalopathy, 52, MONDO:0033361
Green SCN1B in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233 Cardiac conduction defect, nonspecific, 612838 Epileptic encephalopathy, early infantile, 52, 617350 Atrial fibrillation, familial, 13, 615377 Brugada syndrome 5, 612838