CACNA2D1 gene related symptoms and diseases
All the information presented here about the CACNA2D1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CACNA2D1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Atrioventricular block | Very Common - Between 80% and 100% cases |
| Sudden cardiac death | Very Common - Between 80% and 100% cases |
| Syncope | Very Common - Between 80% and 100% cases |
| Atrial fibrillation | Very Common - Between 80% and 100% cases |
| Palpitations | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CACNA2D1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Ventricular tachycardia
- Ventricular arrhythmia
- Ventricular fibrillation
- Right bundle branch block
Not very common - Between 30% and 50% cases
- Cardiac arrest
- Abnormal electrophysiology of sinoatrial node origin
- Prolonged PR interval
- J wave
And 27 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CACNA2D1 gene
Here you will find a list of rare diseases related to the CACNA2D1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
FAMILIAL SHORT QT SYNDROME
Alternate names
FAMILIAL SHORT QT SYNDROME Is also known as sqts
Description
Familial short QT syndrome is a newly described cardiologic entity that associates a short QT interval (QT and QTc 300 ms) on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia.
Most common symptoms of FAMILIAL SHORT QT SYNDROME
- Sudden cardiac death
- Syncope
- Atrial fibrillation
- Palpitations
- Bradycardia
More info about FAMILIAL SHORT QT SYNDROME
Search interest in CACNA2D1
Potential gene panels for CACNA2D1 gene
Epilepsy Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC9A6 SIK1
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability that also includes the following genes: SLC35A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SNAP25 CDKL5 SYN1 SYP
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms that also includes the following genes: SCN2A ST3GAL3 SLC35A2 SPTAN1 CDKL5 STXBP1 CACNA2D1 ARX SLC25A22 ADSL
More info about this panel United States.
NGS Epilepsy/Seizure Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Comprehensive Cardiac Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Cardiac Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1
More info about this panel United States.
Brugada Syndrome Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Brugada Syndrome Panel that also includes the following genes: SCN1B SCN2B SCN5A CACNA1C CACNA2D1 CACNB2 SLMAP HCN4 RANGRF TRPM4
More info about this panel United States.
Cardiac Channelopathy Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Cardiac Channelopathy Panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TRDN CACNA1C CACNA2D1 CACNB2
More info about this panel United States.
Short QT Syndrome Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Short QT Syndrome Panel that also includes the following genes: CACNA1C CACNA2D1 CACNB2 KCNH2 KCNJ2 KCNQ1
More info about this panel United States.
CACNA2D1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the CACNA2D1 gene.
More info about this panel Germany.
CardioNext with TTN Panel
United States.
By Ambry Genetics CardioNext with TTN that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TAZ TBX1 TBX20 TBX5
More info about this panel United States.
CustomNext: Cardio Panel
United States.
By Ambry Genetics CustomNext: Cardio that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SKI SNTA1 TAZ TBX1 TBX20
More info about this panel United States.
RhythmNext Panel
United States.
By Ambry Genetics RhythmNext that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TBX5 TGFB3 TRDN CACNA1C CACNA2D1
More info about this panel United States.
RhythmFirst reflex RhythmNext Panel
United States.
By Ambry Genetics RhythmFirst reflex RhythmNext that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TBX5 TGFB3 TRDN CACNA1C CACNA2D1
More info about this panel United States.
Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TNNT2 TRDN CACNA1C
More info about this panel Netherlands.
Brugada Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Brugada Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SCN1B SCN2B SCN5A CACNA1C CACNA2D1 CACNB2 SLMAP HCN4 RANGRF TRPM4
More info about this panel United States.
Short QT Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Short QT Syndrome Sequencing Panel with CNV Detection that also includes the following genes: CACNA1C CACNA2D1 CACNB2 KCNH2 KCNJ2 KCNQ1
More info about this panel United States.
Comprehensive Cardiology Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF
More info about this panel United States.
Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TGFB3 TNNI3 TRDN
More info about this panel United States.
Brugada syndrome and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Brugada syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A SEMA3A CACNA1C CACNA2D1 CACNB2 CAV3 SLMAP
More info about this panel United States.
Brugada syndrome and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Brugada syndrome and related disorders NGS panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A SEMA3A CACNA1C CACNA2D1 CACNB2 CAV3 SLMAP
More info about this panel United States.
Cardiac channelopathy Deletion/ Duplication panel Panel
United States.
By Connective Tissue Gene Tests Cardiac channelopathy Deletion/ Duplication panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SEMA3A SNTA1 TRDN CACNA1C
More info about this panel United States.
Brugada syndrome and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Brugada syndrome and related disorders Comprehensive panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A SEMA3A CACNA1C CACNA2D1 CACNB2 CAV3 SLMAP
More info about this panel United States.
Cardiac channelopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Cardiac channelopathy Comprehensive panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SEMA3A SNTA1 TRDN CACNA1C
More info about this panel United States.
Cardiac channelopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Cardiac channelopathy NGS panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SEMA3A SNTA1 TRDN CACNA1C
More info about this panel United States.
Short QT syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Short QT syndrome Comprehensive panel that also includes the following genes: CACNA1C CACNA2D1 CACNB2 KCNH2 KCNJ2 KCNQ1
More info about this panel United States.
Short QT syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Short QT syndrome Deletion / Duplication panel that also includes the following genes: CACNA1C CACNA2D1 CACNB2 KCNH2 KCNJ2 KCNQ1
More info about this panel United States.
Short QT syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Short QT syndrome NGS panel that also includes the following genes: CACNA1C CACNA2D1 CACNB2 KCNH2 KCNJ2 KCNQ1
More info about this panel United States.
Cardiac conduction abnormalities panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Cardiac conduction abnormalities panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TGFB3 CACNA1A CACNA2D1 CACNB2 CASQ2
More info about this panel Netherlands.
Brugada Syndrome Panel Panel
Germany.
By CeGaT GmbH Brugada Syndrome Panel that also includes the following genes: SCN10A SCN1B SCN5A CACNA1C CACNA2D1 CACNB2 HCN4 TRPM4 SCN3B GPD1L
More info about this panel Germany.
Atrial Fibrillation and Short QT Syndrome Panel Panel
Germany.
By CeGaT GmbH Atrial Fibrillation and Short QT Syndrome Panel that also includes the following genes: SCN1B SCN2B SCN4B SCN5A CACNA1C CACNA2D1 CACNB2 SCN3B GJA5 ABCC9
More info about this panel Germany.
J Wave Syndrome Panel Panel
Spain.
By Health in Code J Wave Syndrome Panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A CACNA1C CACNA1D CACNA2D1 CACNB2 SLMAP HCN4
More info about this panel Spain.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Brugada Syndrome Panel Panel
Spain.
By Health in Code Brugada Syndrome Panel that also includes the following genes: SCN10A SCN1B SCN2B SCN5A CACNA1C CACNA1D CACNA2D1 CACNB2 SLMAP HCN4
More info about this panel Spain.
Short QT Syndrome Panel Panel
Spain.
By Health in Code Short QT Syndrome Panel that also includes the following genes: CACNA1C CACNA1D CACNA2D1 CACNB2 KCNH2 KCNJ2 KCNQ1
More info about this panel Spain.
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel
Spain.
By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4
More info about this panel Spain.
Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease Panel
Spain.
By Health in Code Ventricular Arrythmia & Sudden Death Panel without Structural Heart Disease that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TNNC1 TNNI3 TNNT2
More info about this panel Spain.
Ventricular arrhythmia and sudden death without structural heart disease Panel
Spain.
By Health in Code Ventricular arrhythmia and sudden death without structural heart disease that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SNTA1 TBX5 TNNC1 TNNI3
More info about this panel Spain.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Short QT syndrome Panel
Spain.
By Health in Code Short QT syndrome that also includes the following genes: CACNA1C CACNA1D CACNA2D1 CACNB2 KCNH2 KCNJ2 KCNQ1
More info about this panel Spain.
Brugada syndrome / J wave syndrome Panel
Spain.
By Health in Code Brugada syndrome / J wave syndrome that also includes the following genes: SCN10A SCN1B SCN2B SCN5A CACNA1C CACNA1D CACNA2D1 CACNB2 SLMAP HCN4
More info about this panel Spain.
Arrhythmia General Panel Panel
Spain.
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panel Spain.
BRUGADA SYNDROME Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases BRUGADA SYNDROME that also includes the following genes: SCN1B SCN5A CACNA1C CACNA2D1 CACNB2 HCN4 RANGRF TRPM4 SCN3B GPD1L
More info about this panel Spain.
Arrhythmia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Arrhythmia NGS Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TGFB3 CACNA1C CACNA2D1 CACNB2 SLC25A20
More info about this panel United States.
Pan-Cardio NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Pan-Cardio NGS Panel that also includes the following genes: MRPL3 RYR2 SCN1B SCN4B SCN5A SDHA SGCD SNTA1 TAZ TBX1
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
CACNA2D1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CACNA2D1 gene.
More info about this panel United States.
Comprehensive Cardiology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panel Finland.
Brugada Syndrome Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Brugada Syndrome Panel that also includes the following genes: SCN1B SCN2B SCN5A CACNA1C CACNA2D1 CACNB2 HCN4 TRPM4 SCN3B GPD1L
More info about this panel United States.
Short QT Syndrome NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Short QT Syndrome NGS and Deletion/Duplication Panel that also includes the following genes: CACNA1C CACNA2D1 CACNB2 KCNH2 KCNJ2 KCNQ1
More info about this panel United States.
CACNA2D1 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the CACNA2D1 gene.
More info about this panel United States.
Short QT Syndrome Panel by NGS Panel
Canada.
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Short QT Syndrome Panel by NGS that also includes the following genes: CACNA1C CACNA2D1 CACNB2 KCNH2 KCNJ2 KCNQ1
More info about this panel Canada.
CACNA2D1 Gene, entire coding region or targeted variant Panel
Canada.
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute
This panel specifically test the CACNA2D1 gene.
More info about this panel Canada.
BRUGADA SYNDROME/LONG-QT/SHORT-QT/VENTRICULAR TACHYCARDIA: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL BRUGADA SYNDROME/LONG-QT/SHORT-QT/VENTRICULAR TACHYCARDIA: NGS PANEL that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCNN1A SNTA1 TRDN CACNA1C
More info about this panel Spain.
Phosphorus Pan Arrhythmia Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia Panel that also includes the following genes: RYR2 SCN10A SCN4B SCN5A SNTA1 TGFB3 TNNI3 TNNT2 TRDN TTN
More info about this panel United States.
Phosphorus Pan Arrhythmia and Cardiomyopathy Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Panel that also includes the following genes: RYR2 SCN10A SCN4B SCN5A SGCD SLC22A5 SNTA1 TAZ TCAP TGFB3
More info about this panel United States.
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1
More info about this panel United States.
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Rasopathies and Recessive Pediatric Syndromes Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 BRAF
More info about this panel United States.
Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Pan Arrhythmia and Cardiomyopathy Including Recessive Pediatric Syndromes Panel that also includes the following genes: RYR2 SCN10A SCN4B SCN5A SDHA SGCD SLC22A5 SNTA1 TAZ TCAP
More info about this panel United States.
Phosphorus Short QT Syndrome Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Short QT Syndrome Panel that also includes the following genes: CACNA1C CACNA2D1 CACNB2 KCNH2 KCNJ2 KCNQ1
More info about this panel United States.
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