NKX2-6 gene related symptoms and diseases

All the information presented here about the NKX2-6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NKX2-6 gene

Symptoms // Phenotype % Cases
Tetralogy of Fallot Uncommon - Between 30% and 50% cases
Truncus arteriosus Uncommon - Between 30% and 50% cases
Pulmonary artery atresia Uncommon - Between 30% and 50% cases
Abnormal heart morphology Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NKX2-6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormal cardiac septum morphology
  • Abnormality of cardiovascular system morphology
  • Double outlet right ventricle
  • Respiratory distress
  • Ventricular septal defect
  • Rarely - Less than 30% cases

  • Hypocalcemia
  • Broad hallux
  • Transposition of the great arteries

And 82 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NKX2-6 gene

Here you will find a list of rare diseases related to the NKX2-6. 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

SOURCES: OMIM MESH ORPHANET

TRUNCUS ARTERIOSUS


Alternate names

TRUNCUS ARTERIOSUS Is also known as common aorticopulmonary trunk, common arterial trunk, tac

Description

Truncus arteriosus (TA) is a rare congenital cardiovascular anomaly characterized by a single arterial trunk arising from the heart by means of a single semilunar valve (i.e. truncal valve). Pulmonary arteries originate from the common arterial trunk distal to the coronary arteries and proximal to the first brachiocephalic branch of the aortic arch. TA typically overrides a large outlet ventricular septal defect (VSD). The intracardiac anatomy usually displays situs solitus and atrioventricular (AV) concordance.


More info about TRUNCUS ARTERIOSUS

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

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


Potential gene panels for NKX2-6 gene

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

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

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

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

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

More info about this panel

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

NKX2-6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NKX2-6 gene.

More info about this panel

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

TRUNCUS ARTERIOSUS COMMUNIS Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the NKX2-6 gene.

More info about this panel

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

More info about this panel

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


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