FOXC2 forkhead box C2

Gene info

Disease info

Animal model

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

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. https://doi.org/10.1136/jmg.39.7.478 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. https://doi.org/10.1086/316915 DOI:10.1086/316915 PMID:11078474