KCNJ8 gene related symptoms and diseases
All the information presented here about the KCNJ8 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 KCNJ8 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Concentric hypertrophic cardiomyopathy | Uncommon - Between 30% and 50% cases |
Pain | Uncommon - Between 30% and 50% cases |
Seizures | Uncommon - Between 30% and 50% cases |
Widened posterior fossa | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with KCNJ8 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Congenital hypertrophy of left ventricle
- Hypoplastic ischiopubic rami
- Broad first metatarsal
- Cuboid-shaped vertebral bodies
- Bilateral coxa valga
- Congenital, generalized hypertrichosis
- Erlenmeyer flask deformity of the femurs
- Curly eyelashes
And 97 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KCNJ8 gene
Here you will find a list of rare diseases related to the KCNJ8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE
Alternate names
HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia
Description
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
Most common symptoms of HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hypertelorism
- Strabismus
More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE
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
Search interest in KCNJ8
Potential gene panels for KCNJ8 gene
Brugada Syndrome Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Brugada Syndrome Panel that also includes the following genes: SCN1B SCN2B SCN5A CACNA1C CACNB2 SLMAP HCN4 TRPM4 SCN3B GPD1L
More info about this panelComprehensive Cardiac Panel Panel
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 panelBrugada Syndrome Panel Panel
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 panelCardiac Channelopathy Panel Panel
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 panelKCNJ8 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the KCNJ8 gene.
More info about this panelKCNJ8 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the KCNJ8 gene.
More info about this panelComprehensive Arrhythmia Panel Panel
By GeneDx Comprehensive Arrhythmia Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 CACNA1C CACNB2 CASQ2 CAV3 HCN4
More info about this panelCardioNext with TTN Panel
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 panelCustomNext: Cardio Panel
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 panelRhythmNext Panel
By Ambry Genetics RhythmNext that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TBX5 TGFB3 TRDN CACNA1C CACNA2D1
More info about this panelRhythmFirst reflex RhythmNext Panel
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 panelCardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis Panel
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 panelCantu syndrome (sequence analysis of KCNJ8 gene) Panel
By CGC Genetics
This panel specifically test the KCNJ8 gene.
More info about this panelKCNJ8-related Brugada Syndrome Panel
By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine
This panel specifically test the KCNJ8 gene.
More info about this panelBrugada Syndrome Sequencing Panel with CNV Detection Panel
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 panelComprehensive Cardiology Sequencing Panel with CNV Detection Panel
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 panelComprehensive Cardiac Arrhythmia Sequencing Panel with CNV Detection Panel
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 panelBrugada syndrome and related disorders Deletion / Duplication panel Panel
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 panelBrugada syndrome and related disorders NGS panel Panel
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 panelCardiac channelopathy Deletion/ Duplication panel Panel
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 panelBrugada syndrome and related disorders Comprehensive panel Panel
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 panelCardiac channelopathy Comprehensive panel Panel
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 panelCardiac channelopathy NGS panel Panel
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 panelCantu syndrome Comprehensive panel Panel
By Connective Tissue Gene Tests Cantu syndrome Comprehensive panel that also includes the following genes: ABCC9 KCNJ8
More info about this panelCantu syndrome Deletion/ Duplication panel Panel
By Connective Tissue Gene Tests Cantu syndrome Deletion/ Duplication panel that also includes the following genes: ABCC9 KCNJ8
More info about this panelCantu syndrome NGS panel Panel
By Connective Tissue Gene Tests Cantu syndrome NGS panel that also includes the following genes: ABCC9 KCNJ8
More info about this panelCardiac conduction abnormalities panel Panel
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 panelBrugada Syndrome Panel Panel
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 panelCardio-channelopathy-gene-panel Panel
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 panelArrhythmia Panel
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 panelAuricular Fibrillation Panel Panel
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 panelJ Wave Syndrome Panel Panel
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 panelInherited Cardiovascular Diseases and Sudden Death Panel Panel
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 panelAortic Valvular Diseases Panel Panel
By Health in Code Aortic Valvular Diseases Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 ACTA2 SLC2A10 CBS ADAMTSL4 COL1A2
More info about this panelBrugada Syndrome Panel Panel
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 panelDilated Cardiomyopathy Panel Panel
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 panelVentricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel
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 panelVentricular Arrythmia & Sudden Death Panel without Structural Heart Disease Panel
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 panelCardiomyopathies Panel Panel
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 panelCongenital Heart Diseases Panel Panel
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 panelHypertrophic Cardiomyopathy Extended Panel Panel
By Health in Code Hypertrophic Cardiomyopathy Extended Panel that also includes the following genes: MRPL3 RYR2 SLC22A5 BRAF SLC25A4 SOS1 SURF1 TAZ TCAP KLF10
More info about this panelVentricular arrhythmia and sudden death without structural heart disease Panel
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 panelCardiovascular Diseases_General Panel Panel
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 panelAtrial fibrillation Panel Panel
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 panelBrugada syndrome / J wave syndrome Panel
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 panelArrhythmia General Panel Panel
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 panelCongenital heart diseases Panel Panel
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 panelHypertrophic cardiomyopathy extended panel Panel
By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ
More info about this panelAortic diseases Panel Panel
By Health in Code Aortic diseases Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS GATA5
More info about this panelCardiomyopathies General Panel Panel
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 panelBRUGADA SYNDROME Panel
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 panelArrhythmias: Sequencing Panel Panel
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 panelComprehensive Cardiovascular: Sequencing Panel Panel
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 panelArrhythmias: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Arrhythmias: Deletion/Duplication Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 CACNA1C CACNB2 CASQ2 HCN4 RANGRF
More info about this panelComprehensive Cardiovascular: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Deletion/Duplication Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI BRAF SNTA1
More info about this panelArrhythmia NGS Panel Panel
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 panelPan-Cardio NGS Panel Panel
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 panelAtrial Fibrillation NGS Panel Panel
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 panelKCNJ8 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KCNJ8 gene.
More info about this panelCardioGene Set Panel
By Genomics and Pathology Services Washington University in St. Louis CardioGene Set that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A SGCD BRAF SNTA1 SOS1 TAZ
More info about this panelArrhythmia Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Arrhythmia Gene Set that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 CACNA1C CACNB2 CALM1 CASQ2 CAV3
More info about this panelBrugada Syndrome Gene Set Panel
By Genomics and Pathology Services Washington University in St. Louis Brugada Syndrome Gene Set that also includes the following genes: SCN1B SCN5A CACNA1C CACNB2 HCN4 SCN3B GPD1L KCND3 KCNE3 KCNJ8
More info about this panelBrugada Syndrome Panel Panel
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 panelCardiac Arrhythmia Exome Panel Panel
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 panelKCNJ8 Gene, entire coding region or targeted variant Panel
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute
This panel specifically test the KCNJ8 gene.
More info about this panelBRUGADA SYNDROME/LONG-QT/SHORT-QT/VENTRICULAR TACHYCARDIA: NGS PANEL Panel
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
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