FOXC1 forkhead box C1
Gene info
Synonyms
FREAC3, ARA, IGDA, IHG1
Previous symbol
FKHL7, IRID1
External ID
HGNC: 3800
Entrez Gene: 2296
Ensembl: ENSG00000054598
UCSC: uc003mtp.4
OMIM:
601090
UniProtKB:
Q12948
Disease info
Disease
CHD Phenotype
- Atrial septal defect
- Tetralogy of fallot
Extra Cardiac Phenotype
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
Heterozygous and homozygous null mice 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.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for FOXC1: BED file
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Selected References
- 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
- 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. https://doi.org/10.1111/j.1399-0004.2008.01025.x DOI:10.1111/j.1399-0004.2008.01025.x PMID:18498376
- 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
- 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