GJA5 gene related symptoms and diseases
All the information presented here about the GJA5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GJA5 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Atrial fibrillation | Common - Between 50% and 80% cases |
| Abnormal cardiac septum morphology | Uncommon - Between 30% and 50% cases |
| Patent ductus arteriosus | Uncommon - Between 30% and 50% cases |
| Syncope | Uncommon - Between 30% and 50% cases |
| Dyspnea | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GJA5 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Sudden cardiac death
- Clinodactyly of the 5th finger
- Thromboembolic stroke
- Arrhythmia
- Truncus arteriosus
- Palpitations
- Congestive heart failure
- Respiratory distress
And 127 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GJA5 gene
Here you will find a list of rare diseases related to the GJA5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TETRALOGY OF FALLOT
Description
Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.
Most common symptoms of TETRALOGY OF FALLOT
- Growth delay
- Muscle weakness
- Cryptorchidism
- Anemia
- Brachydactyly
More info about TETRALOGY OF FALLOT
1Q21.1 MICRODELETION SYNDROME
Alternate names
1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1, del(1)(q21)
Description
1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
Most common symptoms of 1Q21.1 MICRODELETION SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about 1Q21.1 MICRODELETION SYNDROME
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
ATRIAL STANDSTILL
Alternate names
ATRIAL STANDSTILL Is also known as cardiomyopathy, familial, with conduction disturbance, atrial cardiomyopathy with heart block
Description
Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.
Most common symptoms of ATRIAL STANDSTILL
- Congestive heart failure
- Dyspnea
- Sudden cardiac death
- Syncope
- Atrial fibrillation
More info about ATRIAL STANDSTILL
ATRIAL FIBRILLATION, FAMILIAL, 11; ATFB11
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, 11; ATFB11
- Stroke
- Atrial fibrillation
- Thromboembolic stroke
More info about ATRIAL FIBRILLATION, FAMILIAL, 11; ATFB11
SOURCES: OMIM
Search interest in GJA5
Potential gene panels for GJA5 gene
Atrial Fibrillation Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Atrial Fibrillation Panel that also includes the following genes: SCN1B SCN2B SCN5A SCN3B GJA5 ABCC9 KCNA5 KCND3 KCNE1 KCNE2
More info about this panel United States.
GJA5 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the GJA5 gene.
More info about this panel Germany.
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.
Atrial fibrillation, familial 11 (sequence analysis of GJA5 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GJA5 gene.
More info about this panel Portugal.
Familial Atrial Fibrillation Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Familial Atrial Fibrillation Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SCN1B SCN2B SCN5A SCN3B GJA5 ABCC9 KCNA5 KCND3 KCNE1 KCNE5
More info about this panel United States.
Atrial Fibrillation via GJA5 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GJA5 gene.
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.
Atrial fibrillation type 11 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GJA5 gene.
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.
Congenital Heart Defects Panel Panel
Germany.
By CeGaT GmbH Congenital Heart Defects Panel that also includes the following genes: SEMA3E TBX1 TBX20 TBX3 TBX5 TFAP2B TLL1 ZIC3 ACTC1 CRELD1
More info about this panel Germany.
Cardio-channelopathy-gene-panel Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner Cardio-channelopathy-gene-panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TRDN CACNA1C CACNB2 CALM1
More info about this panel Germany.
Arrhythmia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Arrhythmia that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TGFB3 CACNA1C CACNB2 CASQ2
More info about this panel Estonia.
Auricular Fibrillation Panel Panel
Spain.
By Health in Code Auricular Fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A TBX5 TNNI3 TNNT2 TPM1
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.
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.
Cardiac Conduction Disease Panel Panel
Spain.
By Health in Code Cardiac Conduction Disease Panel that also includes the following genes: SCN10A SCN1B SCN4B SCN5A TBX5 TTR CACNA1D ACTC1 LDB3 HCN4
More info about this panel Spain.
Cardiomyopathies Panel Panel
Spain.
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panel Spain.
Congenital Heart Diseases Panel Panel
Spain.
By Health in Code Congenital Heart Diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TNNI3 TTN ACTA2 ACTC1 CRELD1
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.
Cardiac conduction disease Panel Panel
Spain.
By Health in Code Cardiac conduction disease Panel that also includes the following genes: SCN10A SCN1B SCN4B SCN5A TBX5 TTR CACNA1D ACTC1 IRX3 KCNK17
More info about this panel Spain.
Atrial fibrillation Panel Panel
Spain.
By Health in Code Atrial fibrillation Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A TBX5 TNNI3 TNNT2 TPM1
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.
Congenital heart diseases Panel Panel
Spain.
By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2
More info about this panel Spain.
Arrhythmias: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Arrhythmias: Sequencing Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TRDN CACNA1C CACNB2 CALM1 CASQ2
More info about this panel United States.
Comprehensive Cardiovascular: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI SLC22A5 BRAF
More info about this panel United States.
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.
Atrial Fibrillation NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Atrial Fibrillation NGS Panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A HCN4 SCN3B GATA4 GATA6 GJA5
More info about this panel United States.
Sudden Death Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Sudden Death Syndrome NGS Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SGCD SLC25A4 SNTA1 TAZ TCAP TGFB3
More info about this panel United States.
GJA5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GJA5 gene.
More info about this panel United States.
Congenital Structural Heart Disease Panel Panel
Finland.
By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB
More info about this panel Finland.
Cardiac Arrhythmia Exome Panel Panel
United States.
By Northwest Clinical Genomics Laboratory University of Washington Cardiac Arrhythmia Exome Panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TNNT2 TRDN TTN CACNA1C
More info about this panel United States.
Familial Atrial Fibrillation , Panel Massive Sequencing (NGS) 13 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Atrial Fibrillation , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: SCN1B SCN2B SCN4B SCN5A SCN3B GJA5 ABCC9 KCNA5 KCNE2 KCNJ2
More info about this panel Spain.
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes Panel
Spain.
By Reference Laboratory Genetics Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC25A3 SLC6A4 SNTA1 TAZ
More info about this panel Spain.
Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes Panel
Spain.
By Reference Laboratory Genetics Cardiac Conduction System Related Disorders , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: SCN10A SCN1B SCN5A TBX5 TTR CACNA1D ACTC1 HCN4 TRPM4 TNNI3K
More info about this panel Spain.
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