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
Homozygous null mouse has CHD
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for GDF1: BED file
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Selected References
- 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