FOXC2 forkhead box C2

Gene info



Previous symbol


External ID

HGNC: 3801
Entrez Gene: 2303
Ensembl: ENSG00000176692
UCSC: uc002fjq.4
OMIM: 602402
UniProtKB: Q99958

Disease info

CHD Phenotype

  • Ventricular septal defect
  • Patent ductus arteriosus
  • Tetralogy of fallot

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Homozygous knockout mouse has 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 FOXC2: BED file

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Selected References

  1. Brice, G. (2002). Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. Journal of Medical Genetics, 39(7), 478–483. DOI:10.1136/jmg.39.7.478 PMID:12114478
  2. Fang, J., Dagenais, S. L., Erickson, R. P., Arlt, M. F., Glynn, M. W., Gorski, J. L., Seaver, L. H., & Glover, T. W. (2000). Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome. The American Journal of Human Genetics, 67(6), 1382–1388. DOI:10.1086/316915 PMID:11078474