CFC1 cripto, FRL-1, cryptic family 1

Gene info

Synonyms

CRYPTIC

Previous symbol

HTX2

External ID

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

Disease info

CHD Phenotype

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

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Homozygous null mouse has CHD, mice with homozygous single-base mutations have CHD

MGI ID

Variant info

Clinvar

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., … 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 PMID:11062482
  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., … 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., … 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