TAB2 gene related symptoms and diseases

All the information presented here about the TAB2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to TAB2 gene

Symptoms // Phenotype % Cases
Aortic valve stenosis Very Common - Between 80% and 100% cases
Pulmonic stenosis Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Delayed skeletal maturation Uncommon - Between 30% and 50% cases
Abnormality of the pinna Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with TAB2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Short philtrum
  • Broad forehead
  • Dolichocephaly
  • Ventricular septal defect
  • Low-set ears
  • Joint hyperflexibility
  • Long face
  • Prominent nose

And 24 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to TAB2 gene

Here you will find a list of rare diseases related to the TAB2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2


Most common symptoms of CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2

  • Ventricular septal defect
  • Edema
  • Atrial septal defect
  • Congestive heart failure
  • Abnormal heart morphology


More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2

SOURCES: OMIM

POLYVALVULAR HEART DISEASE SYNDROME


Alternate names

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Description

Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

Most common symptoms of POLYVALVULAR HEART DISEASE SYNDROME

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


More info about POLYVALVULAR HEART DISEASE SYNDROME

SOURCES: ORPHANET


Potential gene panels for TAB2 gene

Connective Tissue Disorders Panel Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Connective Tissue Disorders Panel that also includes the following genes: BGN SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 TNXB C1R C1S

More info about this panel

Congenital heart defects, nonsyndromic 2 (sequence analysis of TAB2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the TAB2 gene.

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

Frontometaphyseal dysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Frontometaphyseal dysplasia Comprehensive panel that also includes the following genes: TAB2 FLNA MAP3K7

More info about this panel

Frontometaphyseal dysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Frontometaphyseal dysplasia NGS panel that also includes the following genes: TAB2 FLNA MAP3K7

More info about this panel

Frontometaphyseal dysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Frontometaphyseal dysplasia Deletion / Duplication panel that also includes the following genes: TAB2 FLNA MAP3K7

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

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

TAB2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the TAB2 gene.

More info about this panel

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

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

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

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

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

More info about this panel


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