FOXC2 forkhead box C2
Gene info
Synonyms
MFH-1
Previous symbol
FKHL14
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
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
Homozygous null mouse has 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 FOXC2: BED file
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Selected References
- 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
- 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