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
MGI: Heterozygous and homozygous knockout 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