Congenital Heart Defects, Multiple Types, 2; Chtd2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Congenital Heart Defects, Multiple Types, 2; Chtd2

TAB2

View recommended genes panels

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.

Click here to know more about Mendelian.

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, 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 Panel complete gene list BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2, SLC39A13, DSE, ADAMTS2, COL11A1, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, ZNF469, CHST14, GORAB, FLCN, MFAP5, EFEMP2, ELN, FBLN5, FBN1, FBN2, FLNA, FOXE3, ABCC6, LOX, LTBP4, SMAD2, SMAD3, SMAD4, SMAD6, MYH11, MYLK, NOTCH1, NOTCH2, ATP7A, PKD1, PKD2, PLOD1, B4GALT7, PRDM5, PRKG1, PTDSS1, PYCR1, ALDH18A1 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 %

You can get up to 10 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WITKOP SYNDROME SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3 FECHTNER SYNDROME; FTNS CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3; ICP3 LACTATE DEHYDROGENASE B DEFICIENCY; LDHBD CHROMOSOME 22q11.2 DUPLICATION SYNDROME RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME