Table 2

Genes commonly included in targeted CHD panels.

CHD Genes

MIM

Disorder

Inheritance

CHD7b

214800

CHARGE syndromeb

AD

N/A

Isolated CHD52

ELNa

185500

Supravalvular aortic stenosis

AD

GATA4a

607941

Atrial septal defect 2

AD

614430

Atrioventricular septal defect 4

187500

Tetralogy of Fallot

614429

Ventricular septal defect 1

GATA6b

614475

Atrial septal defect 9

AD

614474

Atrioventricular septal defect 5

600001

Pancreatic agenesis and congenital heart defectsb

217095

Persistent truncus arteriosus

187500

Tetralogy of Fallot

GDF1b

208530

Right atrial isomerismb

AR

613854

Congenital heart defects, multiple types, 6

AD

JAG1b

118450

Alagille syndromeb

AD

187500

Tetralogy of Fallot66

NKX2-5a

108900

Atrial septal defect 7

AD

217095

Conotruncal heart malformations, variable

614435

Hypoplastic left heart syndrome 2

187500

Tetralogy of Fallot

614432

Ventricular septal defect 3

NKX2-6a

217095

Conotruncal heart malformations

AR

217095

Persistent truncus arteriosus

NOTCH1b

109730

Aortic valve disease 1

AD

616028

Adams-Oliver syndrome 5b

NR2F2a

615779

Congenital heart defects, multiple types, 4

AD

TBX1b

188400

DiGeorge syndromeb

AD

192430

Velocardiofacial syndromeb

217095

Conotruncal anomaly face syndromeb

187500

Tetralogy of Fallot

TBX5b

142900

Holt-Oram syndromeb

AD

N/A

Atrioventricular septal defect, Atrial septal defect, Ventricular septal defect61,62,67

ZIC3b

306955

Congenital heart defects, nonsyndromic, 1, X-linked

XLR

306955

Heterotaxy, visceral, 1, X-linkedb

314390

VACTERL association, X-linkedb

  • Table lists 13 genes common across targeted CHD panels offered by four different laboratories included in the Genetic Testing Registry, and available for prenatal testing. An additional 32 CHD genes common across panels from 3 laboratories, and 35 genes common across 2 laboratories are available for testing but not included in this table.

    Note: AD: autosomal dominant; AR: autosomal recessive; XLR:X-linked recessive.

  • a Gene associated with NS-CHD (non-syndromic congenital heart disease) only.

  • b Gene associated with NS-CHD as well as extracardiac/syndromic presentation or heterotaxy.