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GTR Home > Conditions/Phenotypes > Congenital heart defects, multiple types, 6

Congenital heart defects, multiple types, 6

Summary

Multiple types of congenital heart defects are associated with mutation in the GDF1 gene, including tetralogy of fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), total anomalous pulmonary venous return (TAPVR), pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect (VSD), and hypoplastic left or right ventricle (Jin et al., 2017). For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955. [from OMIM]

Available tests

25 tests are in the database for this condition.

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Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CERS1, CHTD6, DORV, DTGA3, LAG1, LASS1, RAI, UOG1, GDF1
    Summary: growth differentiation factor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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