PRDM16 gene related symptoms and diseases
All the information presented here about the PRDM16 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.
Top 5 symptoms and clinical features associated to PRDM16 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Abnormal left ventricle morphology | Very Common - Between 80% and 100% cases |
| Mitral regurgitation | Common - Between 50% and 80% cases |
| Left ventricular noncompaction | Common - Between 50% and 80% cases |
| Dilated cardiomyopathy | Common - Between 50% and 80% cases |
| Congestive heart failure | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with PRDM16 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Arrhythmia
- Ventriculomegaly
Not very common - Between 30% and 50% cases
- Congenital sensorineural hearing impairment
- Atrioventricular block
- Patent ductus arteriosus
- Syncope
- Myopathy
- Cardiomyopathy
And 285 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PRDM16 gene
Here you will find a list of rare diseases related to the PRDM16. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
1P36 DELETION SYNDROME
Alternate names
1P36 DELETION SYNDROME Is also known as del(1)(p36), monosomy 1p36, monosomy 1pter, deletion 1pter, deletion 1p36, monosomy 1p36 syndrome, subtelomeric 1p36 deletion
Description
1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
Most common symptoms of 1P36 DELETION SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about 1P36 DELETION SYNDROME
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
Alternate names
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated, cardiomyopathy, familial dilated, 1, cmpd1, familial or idiopathic dilated cardiomyopathy, fdc
Description
Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.
Most common symptoms of FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
- Sensorineural hearing impairment
- Feeding difficulties
- Fatigue
- Ventriculomegaly
- Cardiomyopathy
More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
LEFT VENTRICULAR NONCOMPACTION
Alternate names
LEFT VENTRICULAR NONCOMPACTION Is also known as spongy myocardium, lvnc, left ventricular hypertrabeculation, left ventricular noncompaction 1 with or without congenital heart defects
Description
Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.
Most common symptoms of LEFT VENTRICULAR NONCOMPACTION
- Abnormal facial shape
- Ventricular septal defect
- Respiratory distress
- Congestive heart failure
- Patent ductus arteriosus
More info about LEFT VENTRICULAR NONCOMPACTION
LEFT VENTRICULAR NONCOMPACTION 8; LVNC8
Most common symptoms of LEFT VENTRICULAR NONCOMPACTION 8; LVNC8
- Hypertension
- Ventriculomegaly
- Congestive heart failure
- Arrhythmia
- Dilated cardiomyopathy
More info about LEFT VENTRICULAR NONCOMPACTION 8; LVNC8
SOURCES: OMIM
Search interest in PRDM16
Potential gene panels for PRDM16 gene
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.
Dilated & Arrhythmogenic Cardiomyopathies Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Dilated & Arrhythmogenic Cardiomyopathies Panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN
More info about this panel United States.
PRDM16 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PRDM16 gene.
More info about this panel Germany.
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes) that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN
More info about this panel United States.
Pan Cardiomyopathy Panel (62 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Pan Cardiomyopathy Panel (62 Genes) that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN
More info about this panel United States.
Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR
More info about this panel Netherlands.
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.
Dilated Cardiomyopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Dilated Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN
More info about this panel United States.
Pan Cardiomyopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Pan Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN5A SCO2 SGCD SGCG BRAF SOS1 TAZ TCAP TGFB3
More info about this panel United States.
Cardiomyopathy, dilated type 1LL Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PRDM16 gene.
More info about this panel Germany.
Left Ventricular Noncompaction Cardiomyopathy (LVNC) Panel Panel
Germany.
By CeGaT GmbH Left Ventricular Noncompaction Cardiomyopathy (LVNC) Panel that also includes the following genes: TAZ TNNT2 TPM1 PRDM16 ACTC1 LDB3 MIB1 DTNA LMNA MYBPC3
More info about this panel Germany.
Left Ventricular Non-Compactation Panel Panel
Spain.
By Health in Code Left Ventricular Non-Compactation Panel that also includes the following genes: RYR2 TAZ TNNC1 TNNI3 TNNT2 TPM1 TTN PRDM16 ACTC1 CASQ2
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.
Dilated Cardiomyopathy Panel Panel
Spain.
By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF TAZ TBX20 TCAP
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.
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.
Non-compaction cardiomyopathy Panel
Spain.
By Health in Code Non-compaction cardiomyopathy that also includes the following genes: RYR2 TAZ TNNC1 TNNI3 TNNT2 TPM1 TTN PRDM16 ACTC1 CASQ2
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.
Cardiomyopathies General Panel Panel
Spain.
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panel Spain.
Dilated Cardiomyopathy: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dilated Cardiomyopathy: Sequencing Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR
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.
Cardiomyopathy: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cardiomyopathy: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD SLC22A5 BRAF SOS1 TAZ TCAP TNNC1
More info about this panel United States.
PRDM16 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PRDM16 gene.
More info about this panel United States.
Cardiomyopathy Panel Panel
Finland.
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panel Finland.
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.
Dilated Cardiomyopathy (DCM) Panel Panel
Finland.
By Blueprint Genetics Dilated Cardiomyopathy (DCM) Panel that also includes the following genes: SCN5A TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN
More info about this panel Finland.
Cardiomyopathy Exome Panel Panel
United States.
By Northwest Clinical Genomics Laboratory University of Washington Cardiomyopathy Exome Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL that also includes the following genes: MRPL3 SCN5A SGCD TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2
More info about this panel Spain.
FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL that also includes the following genes: SCN5A SGCD TAZ TBX20 TBX5 TCAP TMPO TNNC1 TNNI3 TPM1
More info about this panel Spain.
CARDIOMYOPATHY WITH ISOLATED NONCOMPACTION OF LEFT VENTRICULAR: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CARDIOMYOPATHY WITH ISOLATED NONCOMPACTION OF LEFT VENTRICULAR: NGS PANEL that also includes the following genes: TAZ TNNT2 TPM1 PRDM16 ACTC1 LDB3 ACTN2 HCN4 MIB1 CSRP3
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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