Congenital Heart Defects, Multiple Types, 2; Chtd2

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Heart Defects, Multiple Types, 2; Chtd2

  • Ventricular septal defect
  • Edema
  • Atrial septal defect
  • Congestive heart failure
  • Abnormal heart morphology
  • Tetralogy of Fallot
  • Atrial fibrillation
  • Mitral regurgitation
  • Hydrops fetalis
  • Aortic valve stenosis

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Congenital Heart Defects, Multiple Types, 2; Chtd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Congenital heart defects, nonsyndromic 2 (sequence analysis of TAB2 gene).

By CGC Genetics (Portugal).

TAB2
Specificity
100 %
Genes
100 %
Congenital heart disease Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

TBX1, TBX20, TBX5, TAB2, CHD7, NKX2-5, NKX2-6, ELN, GATA4, GATA6, GDF1, JAG1, NOTCH1, NOTCH2, NR2F2
Specificity
7 %
Genes
100 %
Congenital heart disease Comprehensive panel.

By Connective Tissue Gene Tests (United States).

TBX1, TBX20, TBX5, TAB2, CHD7, NKX2-5, NKX2-6, ELN, GATA4, GATA6, GDF1, JAG1, NOTCH1, NOTCH2, NR2F2
Specificity
7 %
Genes
100 %
Congenital heart disease NGS panel.

By Connective Tissue Gene Tests (United States).

TBX1, TBX20, TBX5, TAB2, CHD7, NKX2-5, NKX2-6, ELN, GATA4, GATA6, GDF1, JAG1, NOTCH1, NOTCH2, NR2F2
Specificity
7 %
Genes
100 %
Frontometaphyseal dysplasia Comprehensive panel.

By Connective Tissue Gene Tests (United States).

TAB2, FLNA, MAP3K7
Specificity
34 %
Genes
100 %
Frontometaphyseal dysplasia NGS panel.

By Connective Tissue Gene Tests (United States).

TAB2, FLNA, MAP3K7
Specificity
34 %
Genes
100 %
Frontometaphyseal dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

TAB2, FLNA, MAP3K7
Specificity
34 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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