CFC1 cripto, FRL-1, cryptic family 1

Gene info



Previous symbol


External ID

HGNC: 18292
Entrez Gene: 55997
Ensembl: ENSG00000136698
UCSC: uc002tro.3
OMIM: 605194
UniProtKB: P0CG37

Disease info

CHD Phenotype

  • Atrioventricular septal defect
  • Interrupted aortic arch
  • Tetralogy of fallot
  • Transposition of the great arteries
  • Truncus arteriosus
  • Double outlet right ventricle
  • Heterotaxy

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Homozygous knockout mouse has CHD, mice with homozygous single-base mutations have 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

No variant passing our criteria was found for CFC1.

Selected References

  1. Bamford, R. N., Roessler, E., Burdine, R. D., Şaplakoğlu, U., dela Cruz, J., Splitt, M., Towbin, J., Bowers, P., Marino, B., Schier, A. F., Shen, M. M., Muenke, M., & Casey, B. (2000). Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nature Genetics, 26(3), 365–369. DOI:10.1038/81695
  2. Goldmuntz, E., Bamford, R., Karkera, J. D., dela Cruz, J., Roessler, E., & Muenke, M. (2002). CFC1 Mutations in Patients with Transposition of the Great Arteries and Double-Outlet Right Ventricle. The American Journal of Human Genetics, 70(3), 776–780. DOI:10.1086/339079 PMID:11799476
  3. Özcelik, C., Bit-Avragim, N., Panek, A., Gaio, U., Geier, C., Lange, P. E., Dietz, R., Posch, M. G., Perrot, A., & Stiller, B. (2006). Mutations in the EGF-CFC Gene Cryptic Are an Infrequent Cause of Congenital Heart Disease. Pediatric Cardiology, 27(6), 695–698. DOI:10.1007/s00246-006-1082-0 PMID:17072672
  4. Roessler, E., Ouspenskaia, M. V., Karkera, J. D., Vélez, J. I., Kantipong, A., Lacbawan, F., Bowers, P., Belmont, J. W., Towbin, J. A., Goldmuntz, E., Feldman, B., & Muenke, M. (2008). Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly. The American Journal of Human Genetics, 83(1), 18–29. DOI:10.1016/j.ajhg.2008.05.012 PMID:18538293