FOXC1 forkhead box C1

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. 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. https://doi.org/10.1371/journal.pone.0095453 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. Portico. https://doi.org/10.1111/j.1399-0004.2008.01025.x DOI:10.1111/j.1399-0004.2008.01025.x
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. https://doi.org/10.1086/302109 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. https://doi.org/10.1038/ejhg.2009.93 DOI:10.1038/ejhg.2009.93 PMID:19513095