NKX2-5 gene related symptoms and diseases

All the information presented here about the NKX2-5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NKX2-5 gene

Symptoms // Phenotype % Cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Abnormal heart morphology Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Growth delay Rare - less than 30% cases
Atrial septal defect Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with NKX2-5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Hypoplastic left heart
  • Muscle weakness
  • Tetralogy of Fallot
  • Abnormal cardiac septum morphology
  • Abnormality of cardiovascular system morphology
  • Global developmental delay
  • Abnormality of metabolism/homeostasis
  • Double outlet right ventricle

And 165 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NKX2-5 gene

Here you will find a list of rare diseases related to the NKX2-5. 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

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

SOURCES: OMIM MESH ORPHANET

FAMILIAL BICUSPID AORTIC VALVE


Alternate names

FAMILIAL BICUSPID AORTIC VALVE Is also known as aortic valve, calcification of, aortic stenosis, calcific, aortic valve, bicuspid, familial bav, bav, bicuspid aortic valve, aortic valve disease

Description

Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).

Most common symptoms of FAMILIAL BICUSPID AORTIC VALVE

  • Hypertension
  • Fever
  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect


More info about FAMILIAL BICUSPID AORTIC VALVE

SOURCES: ORPHANET OMIM

ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE


Alternate names

ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE Is also known as asd, ostium secundum type


More info about ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE

SOURCES: ORPHANET

CONOTRUNCAL HEART MALFORMATIONS; CTHM


Most common symptoms of CONOTRUNCAL HEART MALFORMATIONS; CTHM

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge


More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM

SOURCES: OMIM

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5


Most common symptoms of HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5

  • Growth delay
  • Intellectual disability, severe
  • Abnormality of metabolism/homeostasis
  • Intellectual disability, progressive
  • Congenital hypothyroidism


More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5; CHNG5

SOURCES: OMIM MESH

ATRIAL SEPTAL DEFECT-ATRIOVENTRICULAR CONDUCTION DEFECTS SYNDROME


Alternate names

ATRIAL SEPTAL DEFECT-ATRIOVENTRICULAR CONDUCTION DEFECTS SYNDROME Is also known as asd with or without atrioventricular conduction defects

Description

Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.

Most common symptoms of ATRIAL SEPTAL DEFECT-ATRIOVENTRICULAR CONDUCTION DEFECTS SYNDROME

  • Ventricular septal defect
  • Atrial septal defect
  • Arrhythmia
  • Abnormal heart morphology
  • Abnormal cardiac septum morphology


More info about ATRIAL SEPTAL DEFECT-ATRIOVENTRICULAR CONDUCTION DEFECTS SYNDROME

SOURCES: OMIM ORPHANET

HYPOPLASTIC LEFT HEART SYNDROME


Alternate names

HYPOPLASTIC LEFT HEART SYNDROME Is also known as hlhs

Description

Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.

Most common symptoms of HYPOPLASTIC LEFT HEART SYNDROME

  • Ventricular septal defect
  • Atrial septal defect
  • Patent ductus arteriosus
  • Hypoplastic left heart
  • Maternal diabetes


More info about HYPOPLASTIC LEFT HEART SYNDROME

SOURCES: OMIM ORPHANET

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

FAMILIAL ISOLATED CONGENITAL ASPLENIA


Alternate names

FAMILIAL ISOLATED CONGENITAL ASPLENIA Is also known as splenic hypoplasia, asplenia, familial, hyposplenia, isolated congenital

Description

Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.

Most common symptoms of FAMILIAL ISOLATED CONGENITAL ASPLENIA

  • Fever
  • Vomiting
  • Immunodeficiency
  • Abnormality of metabolism/homeostasis
  • Sepsis


More info about FAMILIAL ISOLATED CONGENITAL ASPLENIA

SOURCES: OMIM ORPHANET MESH

VENTRICULAR SEPTAL DEFECT 3; VSD3


Description

Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14 to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by {3,4:Wang et al., 2011, 2011}).Other congenital cardiac defects caused by mutation in the NKX2-5 gene include atrial septal defect with or without atrioventricular conduction defects (ASD7 ), tetralogy of Fallot (see TOF, {187500}), conotruncal malformations (see {217095}), and hypoplastic left heart syndrome (HLHS2 ).For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (OMIM ).

Most common symptoms of VENTRICULAR SEPTAL DEFECT 3; VSD3

  • Hypertension
  • Ventricular septal defect
  • Atrial septal defect
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology


More info about VENTRICULAR SEPTAL DEFECT 3; VSD3

SOURCES: OMIM

DELETION 5Q35


Alternate names

DELETION 5Q35 Is also known as telomeric deletion 5q, distal 5q deletion, del (5)(qter), del (5)(q35), monosomy 5q35

Description

Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment.


More info about DELETION 5Q35

SOURCES: ORPHANET

THYROID ECTOPIA


Description

Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Most common symptoms of THYROID ECTOPIA

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia


More info about THYROID ECTOPIA

SOURCES: ORPHANET

ATHYREOSIS


Description

Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Most common symptoms of ATHYREOSIS

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia


More info about ATHYREOSIS

SOURCES: ORPHANET


Potential gene panels for NKX2-5 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

Ciliopathies Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1

More info about this panel

Heterotaxia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Heterotaxia that also includes the following genes: ZIC3 CRELD1 ACVR2B CITED2 NKX2-5 DNAH11 DNAH5 DNAI1 SHROOM3 LEFTY2

More info about this panel

Atrioventricular Block Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Atrioventricular Block Panel that also includes the following genes: SCN1B SCN5A TRPM4 NKX2-5 DES EMD LMNA

More info about this panel

Congenital Heart Disease Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Congenital Heart Disease Panel that also includes the following genes: TBX1 TBX5 NKX2-5

More info about this panel

NKX2.5 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the NKX2-5 gene.

More info about this panel

Heterotaxy V2 Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Heterotaxy V2 Panel that also includes the following genes: ZIC3 CRELD1 ACVR2B CFC1 BCL9L NKX2-5 CFAP53 DNAH11 DNAH5 NAT10

More info about this panel

NKX2.5 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the NKX2-5 gene.

More info about this panel

NKX2.5 deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the NKX2-5 gene.

More info about this panel

NKX2-5 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the NKX2-5 gene.

More info about this panel

Comprehensive Arrhythmia Panel Panel

United States.

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 panel

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

CMNext with TTN Panel

United States.

By Ambry Genetics CMNext with TTN that also includes the following genes: RYR2 SCN5A TAZ TBX20 TCAP TGFB3 TMPO TNNC1 TNNI3 TNNT2

More info about this panel

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

DCMNext with TTN Panel

United States.

By Ambry Genetics DCMNext with TTN that also includes the following genes: SCN5A TAZ TBX20 TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN

More info about this panel

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

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

NKX2-5 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the NKX2-5 gene.

More info about this panel

NKX2-5. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NKX2-5 gene.

More info about this panel

Atrial septal defect 7, with or without AV conduction defects (sequence analysis of NKX2-5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NKX2-5 gene.

More info about this panel

Isolated Nonsyndromic Congenital Heart Disease/Defects Panel

United States.

By John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine

This panel specifically test the NKX2-5 gene.

More info about this panel

Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Hypothyroidism and Thyroid Hormone Resistance Sequencing Panel with CNV Detection that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TRH TSHB DUOX2

More info about this panel

Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Heterotaxy, Situs Inversus and Kartagener's Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SPAG1 ZIC3 CFAP298 MMP21 NME8 LRRC6 ACVR2B INVS DNAI2 ZMYND10

More info about this panel

Isolated Nonsyndromic Congenital Heart Defects via NKX2-5 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NKX2-5 gene.

More info about this panel

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

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

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

Ciliopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237

More info about this panel

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

Atrioventricular block Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Atrioventricular block Deletion/ Duplication panel that also includes the following genes: SCN1B SCN5A TRPM4 NKX2-5 DES EMD LMNA

More info about this panel

Congenital heart disease Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Congenital heart disease Deletion / Duplication panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6

More info about this panel

Congenital heart disease Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Congenital heart disease Comprehensive panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6

More info about this panel

Congenital heart disease NGS panel Panel

United States.

By Connective Tissue Gene Tests Congenital heart disease NGS panel that also includes the following genes: TBX1 TBX20 TBX5 TAB2 CHD7 NKX2-5 NKX2-6 ELN GATA4 GATA6

More info about this panel

Heart Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB

More info about this panel

Congenital heart defects panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Congenital heart defects panel that also includes the following genes: BRAF SOS1 TAZ TBX20 TBX5 ZIC3 ACTC1 CRELD1 CBL SHOC2

More info about this panel

Heterotaxy panel Panel

Germany.

By Centogene AG - the Rare Disease Company Heterotaxy panel that also includes the following genes: ZIC3 CRELD1 ACVR2B CFC1 NKX2-5 LEFTY2 FOXH1 GDF1 GJA1 NODAL

More info about this panel

Atrial septal defect with atrioventricular conduction defects Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NKX2-5 gene.

More info about this panel

Congenital heart defects panel Panel

Germany.

By Centogene AG - the Rare Disease Company Congenital heart defects panel that also includes the following genes: TBX1 TBX20 CRELD1 ZFPM2 CFC1 CITED2 NKX2-5 FOXH1 GATA4 GATA6

More info about this panel

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

Single gene testing NKX2-5 Panel

Germany.

By CeGaT GmbH

This panel specifically test the NKX2-5 gene.

More info about this panel

Hypothyroidism and Thyroid Hormone Resistance Panel

Estonia.

By Asper Biogene Asper Biogene LLC Hypothyroidism and Thyroid Hormone Resistance that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 IYD

More info about this panel

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

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

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

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

Aortic Valvular Diseases Panel Panel

Spain.

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 panel

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

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

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

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

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

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

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

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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

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

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

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

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

Aortic diseases Panel Panel

Spain.

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 panel

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

Isolated Nonsyndromic Congenital Heart Disease/Defects Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre Isolated Nonsyndromic Congenital Heart Disease/Defects that also includes the following genes: TBX20 NKX2-5 GATA4

More info about this panel

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

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Invitae Arrhythmia Comprehensive Panel Panel

United States.

By Invitae Invitae Arrhythmia Comprehensive Panel that also includes the following genes: RYR2 SCN5A TNNI3 TNNT2 TRDN TTN CACNA1C CACNB2 CALM1 CALM2

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Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel Panel

United States.

By Invitae Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel that also includes the following genes: RYR2 SCN5A SGCD SLC22A5 TAZ TCAP TGFB3 TNNC1 TNNI3 TNNT2

More info about this panel

Invitae Congenital Heart Defects and Heterotaxy Panel Panel

United States.

By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298

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Invitae Congenital Heart Disease Panel Panel

United States.

By Invitae Invitae Congenital Heart Disease Panel that also includes the following genes: RIT1 BRAF SOS1 TBX1 TBX5 ZIC3 NSD1 ACTC1 CRELD1 CBL

More info about this panel

CONGENITAL HYPOTHYROIDISM Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CONGENITAL HYPOTHYROIDISM that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 IYD

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Isolated Nonsyndromic Congenital Heart Disease: NKX2-5 Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the NKX2-5 gene.

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Isolated Nonsyndromic Congenital Heart Disease: NKX2-5 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the NKX2-5 gene.

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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

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Ciliopathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41

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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

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Arrhythmias: Deletion/Duplication Panel Panel

United States.

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

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Comprehensive Cardiovascular: Deletion/Duplication Panel Panel

United States.

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

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Familial Congenital Heart Disease Full Gene Sequencing Panel Panel

United States.

By Integrated Genetics Westborough Integrated Genetics Familial Congenital Heart Disease Full Gene Sequencing Panel that also includes the following genes: TBX5 CHD7 NKX2-5 GATA4

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Ciliopathies NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL

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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

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Heterotaxy and Situs Inversus NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Heterotaxy and Situs Inversus NGS Panel that also includes the following genes: ZIC3 NME8 ACVR2B INVS CFC1 DNAI2 DNAAF2 DNAL1 NKX2-5 CCDC39

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NKX2-5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NKX2-5 gene.

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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

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Arrhythmia Panel Panel

Finland.

By Blueprint Genetics Arrhythmia Panel that also includes the following genes: RYR2 SCN10A SCN1B SCN5A TBX5 TGFB3 TNNI3 TNNT2 TRDN TTN

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Hypothyroidism and Resistance to Thyroid Hormone Panel Panel

Finland.

By Blueprint Genetics Hypothyroidism and Resistance to Thyroid Hormone Panel that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 NKX2-5

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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

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Atrial septal defect - atrioventricular conduction defects Panel

Spain.

By Bioarray

This panel specifically test the NKX2-5 gene.

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Congenital Hypothyroidism, Nongoitrous NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Congenital Hypothyroidism, Nongoitrous NGS and Deletion/Duplication Panel that also includes the following genes: THRA TSHB NKX2-5 PAX8

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Familial Atrial Septal Defect NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Familial Atrial Septal Defect NGS and Deletion/Duplication Panel that also includes the following genes: TBX20 ACTC1 NKX2-5 GATA4 MYH6 MYH7

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NKX2-5 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 NKX2-5 gene.

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Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

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High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

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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

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CONGENITAL HEART DEFECTS: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL HEART DEFECTS: NGS PANEL that also includes the following genes: TBX1 TBX20 TBX5 ZIC3 ACTC1 CRELD1 ZFPM2 TAB2 CFC1 CITED2

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CONGENITAL HYPOTHYROIDISM – NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL HYPOTHYROIDISM – NGS PANEL that also includes the following genes: SLC5A5 TG THRA NKX2-1 TPO TSHB DUOX2 IYD NKX2-5 DUOXA2

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THYROID HYPOPLASIA / ATHYREOSIS/ THYROID DYSGENESIS Panel

Spain.

By Laboratorio de Genetica Clinica SL THYROID HYPOPLASIA / ATHYREOSIS/ THYROID DYSGENESIS that also includes the following genes: NKX2-1 NKX2-5 FOXE1 PAX8

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HETEROTAXY & SITUS INVERSUS Panel

Spain.

By Laboratorio de Genetica Clinica SL HETEROTAXY & SITUS INVERSUS that also includes the following genes: ZIC3 MMP21 CRELD1 ACVR2B PKD1L1 CFC1 NKX2-5 CFAP53 LEFTY2 FOXH1

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Congenital Heart Disease, Sequencing NKX2-5 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NKX2-5 gene.

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Congenital Hypothyroidism, Sequencing NKX2-5 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NKX2-5 gene.

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Conotruncal Heart Malformations Related Disorders , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Conotruncal Heart Malformations Related Disorders , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: TBX1 NKX2-5 NKX2-6 GATA6 GDF1

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Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB IYD NKX2-5

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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

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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

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