FOXC1 forkhead box C1

Gene info



Previous symbol


External ID

HGNC: 3800
Entrez Gene: 2296
Ensembl: ENSG00000054598
UCSC: uc003mtp.4
OMIM: 601090
UniProtKB: Q12948

Disease info

CHD Phenotype

  • Atrial septal defect
  • Tetralogy of fallot

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Heterozygous and homozygous knockout mice 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

Download annotation file for FOXC1: BED file

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Selected References

  1. Töpf, A., Griffin, H. R., Glen, E., Soemedi, R., Brown, D. L., Hall, D., Rahman, T. J., Eloranta, J. J., Jüngst, C., Stuart, A. G., O’Sullivan, J., Keavney, B. D., & Goodship, J. A. (2014). Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot. PLoS ONE, 9(8), e95453. DOI:10.1371/journal.pone.0095453 PMID:25093829
  2. Weisschuh, N., Wolf, C., Wissinger, B., & Gramer, E. (2008). A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters’ anomaly. Clinical Genetics, 74(5), 476–480. DOI:10.1111/j.1399-0004.2008.01025.x PMID:18498376
  3. Mears, A. J., Jordan, T., Mirzayans, F., Dubois, S., Kume, T., Parlee, M., Ritch, R., Koop, B., Kuo, W.-L., Collins, C., Marshall, J., Gould, D. B., Pearce, W., Carlsson, P., Enerbäck, S., Morissette, J., Bhattacharya, S., Hogan, B., Raymond, V., & Walter, M. A. (1998). Mutations of the Forkhead/Winged-Helix Gene, FKHL7, in Patients with Axenfeld-Rieger Anomaly. The American Journal of Human Genetics, 63(5), 1316–1328. DOI:10.1086/302109 PMID:9792859
  4. Tümer, Z., & Bach-Holm, D. (2009). Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. European Journal of Human Genetics, 17(12), 1527–1539. DOI:10.1038/ejhg.2009.93 PMID:19513095