GDF1 growth differentiation factor 1

Gene info



Previous symbol


External ID

HGNC: 4214
Entrez Gene: 2657
Ensembl: ENSG00000130283
UCSC: uc060vuk.1
OMIM: 602880
UniProtKB: P27539

Disease info

CHD Phenotype

  • Ventricular septal defect
  • Atrioventricular septal defect
  • Pulmonic stenosis
  • Pulmonary atresia
  • Tetralogy of fallot
  • Transposition of the great arteries
  • Double outlet right ventricle
  • Dextrocardia
  • Total anomalous pulmonary venous return
  • Main aortopulmonary collateral arteries

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Homozygous knockout mouse has CHD


Variant info


Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for GDF1: BED file

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Selected References

  1. Karkera, J. D., Lee, J. S., Roessler, E., Banerjee-Basu, S., Ouspenskaia, M. V., Mez, J., Goldmuntz, E., Bowers, P., Towbin, J., Belmont, J. W., Baxevanis, A. D., Schier, A. F., & Muenke, M. (2007). Loss-of-Function Mutations in Growth Differentiation Factor-1 (GDF1) Are Associated with Congenital Heart Defects in Humans. The American Journal of Human Genetics, 81(5), 987–994. DOI:10.1086/522890 PMID:17924340