GDF1 growth differentiation factor 1

Gene info

Synonyms

None

Previous symbol

None

External ID

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

Disease info

Disease

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

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Homozygous knockout mouse has CHD

MGI ID

95683

Variant info

Clinvar

GDF1

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

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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. https://doi.org/10.1086/522890 DOI:10.1086/522890 PMID:17924340