Congenital Heart Defects, Multiple Types, 4; Chtd4

Clinical Features

Phenotypes and symptoms related to Congenital Heart Defects, Multiple Types, 4; Chtd4

  • Ventricular septal defect
  • Tetralogy of Fallot
  • Coarctation of aorta
  • Aortic valve stenosis
  • Hypoplastic left heart
  • Atrioventricular canal defect

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.

Congenital Heart Defects, Multiple Types, 4; Chtd4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Heart Diseases - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, RRAS, RYR2, SCN4B, SCN5A, SCO2, SDHA, BMPR2, SGCA, SGCB, SGCD, SGCG, SLC22A5, BRAF, SLC25A3, SNTA1, SOS1, SOS2, TAZ, TBX1 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Congenital Heart Defects Panel.

By CeGaT GmbH (Germany).

SEMA3E, TBX1, TBX20, TBX3, TBX5, TFAP2B, TLL1, ZIC3, ACTC1, CRELD1, GATA5, ZFPM2, TAB2, ACVR2B, CFC1, CITED2, CHD7, MED13L, NKX2-5, CFAP53 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Invitae Congenital Heart Defects and Heterotaxy Panel.

By Invitae (United States).

RIT1, RPGR, BRAF, SOS1, SPAG1, TBX1, TBX5, RSPH1, ZIC3, CFAP298, NEK8, NSD1, ACTC1, CBL, SHOC2, NME8, LRRC6, ZNF423, ACVR2B, INVS , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
Invitae Congenital Heart Disease Panel.

By Invitae (United States).

RIT1, BRAF, SOS1, TBX1, TBX5, ZIC3, NSD1, ACTC1, CRELD1, CBL, SHOC2, ZFPM2, ACVR2B, CHD7, BCOR, MED13L, NKX2-5, LEFTY2, NKX2-6, ELN , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
NR2F2.

By Fulgent Genetics Fulgent Genetics (United States).

NR2F2
Specificity
100 %
Genes
100 %

You can get up to 1 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

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