SCN1B gene related symptoms and diseases

All the information presented here about the SCN1B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to SCN1B gene

Symptoms // Phenotype	% Cases
Syncope	Common - Between 50% and 80% cases
Fever	Common - Between 50% and 80% cases
Arrhythmia	Uncommon - Between 30% and 50% cases
Seizures	Uncommon - Between 30% and 50% cases
Sudden cardiac death	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with SCN1B gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
ST segment elevation
Atrial fibrillation
Tachycardia
Generalized myoclonic seizures
Focal impaired awareness seizure
Generalized tonic-clonic seizures
Abnormal heart morphology
Stroke

And 114 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SCN1B gene

Here you will find a list of rare diseases related to the SCN1B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

Alternate names

FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT Is also known as familial lev disease, familial lenÈgre disease, familial lev-lenÈgre disease, pfhbib, hereditary bundle branch defect, familial pccd, familial progressive heart block

Description

Familial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death.

Most common symptoms of FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

Arrhythmia
Abnormal heart morphology
Abdominal pain
Dyspnea
Vertigo

More info about FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

SOURCES: OMIM ORPHANET

SUDDEN INFANT DEATH SYNDROME

Alternate names

SUDDEN INFANT DEATH SYNDROME Is also known as sids

Description

Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004).Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways.

Most common symptoms of SUDDEN INFANT DEATH SYNDROME

Fever
Respiratory distress
Abnormal heart morphology
Pneumonia
Acidosis

More info about SUDDEN INFANT DEATH SYNDROME

SOURCES: OMIM MESH

BRUGADA SYNDROME

Alternate names

BRUGADA SYNDROME Is also known as dream disease, idiopathic ventricular fibrillation, brugada type, sudden unexplained nocturnal death syndrome, bangungut, pokkuri death syndrome, sunds

Description

Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities.

Most common symptoms of BRUGADA SYNDROME

Seizures
Pain
Arrhythmia
Vertigo
Tachycardia

More info about BRUGADA SYNDROME

SOURCES: ORPHANET OMIM

BRUGADA SYNDROME 1; BRGDA1

Alternate names

BRUGADA SYNDROME 1; BRGDA1 Is also known as right bundle branch block, st segment elevation, and sudden death syndrome, sudden unexplained nocturnal death syndrome, sunds

Description

Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005). Genetic Heterogeneity of Brugada SyndromeBrugada syndrome-2 (OMIM ) is caused by mutation in the GPD1L gene (OMIM ) on chromosome 3p22. Brugada syndrome-3 (OMIM ) and Brugada syndrome-4 (OMIM ), the phenotypes of which include a shortened QT interval on ECG, are caused by mutation in the CACNA1C gene (OMIM ) on chromosome 12p13 and CACNB2 gene (OMIM ) on chromosome 10p12, respectively. Brugada syndrome-5 (OMIM ) is caused by mutation in the SCN1B gene (OMIM ) on chromosome 19q13. Brugada syndrome-6 (OMIM ) is caused by mutation in the KCNE3 gene (OMIM ) on chromosome 11q13. Brugada syndrome-7 (OMIM ) is caused by mutation in the SCN3B gene (OMIM ) on chromosome 11q24. Brugada syndrome-8 (OMIM ) is caused by mutation in the HCN4 gene (OMIM ) on chromosome 15q24. Brugada syndrome-9 (OMIM ) is caused by mutation in the KCND3 gene (OMIM ) on chromosome 1p13.Antzelevitch et al. (2007) screened 82 consecutive probands with a clinical diagnosis of Brugada syndrome for mutations in 16 ion channel genes. Seven probands were found to have mutations in the CACNA1C (OMIM ) or CACNB2 (OMIM ) genes, including 3 Brugada probands with shortened QTc intervals (see {611875} and {611876}). Fifteen percent of probands harbored a pathogenic mutation in the SCN5A gene.Delpon et al. (2008) screened 14 ion channel genes in 105 probands with Brugada syndrome and detected SCN5A mutations in 14.3%, CACNA1C mutations in 6.7%, and CACNB2 mutations in 4.8% of the probands.Hu et al. (2009) analyzed 9 'Brugada susceptibility' genes, including SCN5A, GPD1L (OMIM ), CACNB2, CACNA1C, SCN1B (OMIM ), KCNE2 (OMIM ), KCNE3 (OMIM ), KCNE4 (OMIM ), and IRX5 (OMIM ), as well as the sodium channel beta subunit SCN3B (OMIM ), in 179 probands with Brugada syndrome; they noted that 129 (72.07%) of the probands were negative for mutation in all of the genes tested.Crotti et al. (2012) analyzed 12 Brugada syndrome susceptibility genes in 129 unrelated patients with possible or probable Brugada syndrome and identified SCN5A mutations in 21 (16.3%) of the patients; only 6 (4.6%) of the patients carried a mutation in 1 of the other 11 genes.In a cohort of 91 SCN5A-negative Brugada syndrome patients and 91 European controls from the 1000 Genomes Project database, Di Resta et al. (2015) analyzed 158 arrhythmia- and cardiac defect-associated genes. A significant enrichment in Brugada syndrome samples was found only for the DSG2 gene (OMIM ), with 6 (6%) of 91 patients having a rare functional variant compared to none of the 91 controls (p = 0.029). In addition, borderline significance was detected for the MYH7 gene (OMIM ) (5 patients versus 0 controls; p = 0.059). Analysis of phenotype correlations yielded statistical significance only between the presence of a DSG2 variant and syncope, documented ventricular tachycardia/fibrillation, and/or cardiac arrest (p = 0.034). Di Resta et al. (2015) noted the possible genetic overlap between different cardiac disorders, suggesting common pathogenetic pathways.

Most common symptoms of BRUGADA SYNDROME 1; BRGDA1

Fever
Respiratory distress
Arrhythmia
Abnormal heart morphology
Tachycardia

More info about BRUGADA SYNDROME 1; BRGDA1

SOURCES: OMIM

FAMILIAL ATRIAL FIBRILLATION

Alternate names

FAMILIAL ATRIAL FIBRILLATION Is also known as atrial fibrillation, autosomal dominant

Description

Familial atrial fibrillation is a rare, genetically heterogenous cardiac disease characterized by erratic activation of the atria with an irregular ventricular response, in various members of a single family. It may be asymptomatic or associated with palpitations, dyspnea and light-headedness. Concomitant rhythm disorders and cardiomyopathies are frequently reported.

Most common symptoms of FAMILIAL ATRIAL FIBRILLATION

Pain
Respiratory distress
Arrhythmia
Stroke
Dilated cardiomyopathy

More info about FAMILIAL ATRIAL FIBRILLATION

SOURCES: OMIM MESH ORPHANET

DRAVET SYNDROME

Alternate names

DRAVET SYNDROME Is also known as smei, severe myoclonus epilepsy of infancy, ds, severe myoclonic epilepsy of infancy, dravet syndrome

Description

Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.

Most common symptoms of DRAVET SYNDROME

Intellectual disability
Seizures
Global developmental delay
Microcephaly
Ataxia

More info about DRAVET SYNDROME

SOURCES: OMIM ORPHANET

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

Alternate names

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS Is also known as gefs+1, gefs+, gefs+, type 1

Description

Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).

Most common symptoms of GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

Intellectual disability
Seizures
Fever
Generalized tonic-clonic seizures
Generalized myoclonic seizures

More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

SOURCES: OMIM ORPHANET MESH

ATRIAL FIBRILLATION, FAMILIAL, 13; ATFB13

Description

Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of familial atrial fibrillation, see ATFB1 (OMIM ).

Most common symptoms of ATRIAL FIBRILLATION, FAMILIAL, 13; ATFB13

Hypertension
Stroke
Syncope
Atrial fibrillation
Aortic valve stenosis

More info about ATRIAL FIBRILLATION, FAMILIAL, 13; ATFB13

SOURCES: OMIM

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

Description

EIEE52 is an autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities (summary by Patino et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Ataxia

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

SOURCES: OMIM

Search interest in SCN1B

Potential gene panels for SCN1B gene

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1

SCN1B gene related symptoms and diseases

Top 5 symptoms and clinical features associated to SCN1B gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to SCN1B gene

FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

Alternate names

Description

Most common symptoms of FAMILIAL PROGRESSIVE CARDIAC CONDUCTION DEFECT

SUDDEN INFANT DEATH SYNDROME

Alternate names

Description

Most common symptoms of SUDDEN INFANT DEATH SYNDROME

BRUGADA SYNDROME

Alternate names

Description

Most common symptoms of BRUGADA SYNDROME

BRUGADA SYNDROME 1; BRGDA1

Alternate names

Description

Most common symptoms of BRUGADA SYNDROME 1; BRGDA1

FAMILIAL ATRIAL FIBRILLATION

Alternate names

Description

Most common symptoms of FAMILIAL ATRIAL FIBRILLATION

DRAVET SYNDROME

Alternate names

Description

Most common symptoms of DRAVET SYNDROME

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

Alternate names

Description

Most common symptoms of GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

ATRIAL FIBRILLATION, FAMILIAL, 13; ATFB13

Description

Most common symptoms of ATRIAL FIBRILLATION, FAMILIAL, 13; ATFB13

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

Description

Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

Search interest in SCN1B

Potential gene panels for SCN1B gene

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel

NGS Epilepsy/Seizure Panel Panel

Brugada Syndrome Panel Panel

Comprehensive Cardiac Panel Panel

Cardiomyopathy Panel Panel

Brugada Syndrome Panel

Childhood Epilepsy Panel

Comprehensive Arrhythmias Panel Panel

Epilepsy/Seizure Panel

Infantile Epilepsy Panel

Atrioventricular Block Panel Panel

Atrial Fibrillation Panel Panel

Brugada Syndrome Panel Panel

Cardiac Channelopathy Panel Panel

Cardiac Arrhythmia Gene Panel Panel

SCN1B Panel

Epilepsy Panel - Comprehensive Panel

Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel

Comprehensive Epilepsy Panel Panel

STAT Epilepsy Panel Panel

Infantile Epilepsy Panel Panel

Childhood-Onset Epilepsy Panel Panel

Brugada Syndrome Sequencing Panel Panel

Comprehensive Arrhythmia Panel Panel

CardioNext with TTN Panel

CustomNext: Neuro Panel

CustomNext: Cardio Panel

Neurodevelopment-Expanded Panel

RhythmNext Panel

RhythmFirst reflex RhythmNext Panel

EpiFirst-Fever Panel

EpiFirst-Focal Panel

EpilepsyNext Panel

EpiRapid reflex EpilepsyNext Panel

Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis Panel

MECP2, SCN1B, GABRG2, LGI1, POLG, POLG2, SLC25A22, SPTAN1, SRPX2. NextGeneDx.Complete sequencing by NGS Panel

SCN1B. Complete sequencing Panel