FOXH1 forkhead box H1

Gene info



Previous symbol


External ID

HGNC: 3814
Entrez Gene: 8928
Ensembl: ENSG00000160973
UCSC: uc003zdc.4
OMIM: 603621
UniProtKB: O75593

Disease info



CHD Phenotype

  • Tetralogy of fallot
  • Transposition of the great arteries
  • Heterotaxy

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Mice homozygous for a single point mutation or null allele have CHD


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

Download annotation file for FOXH1: BED file

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Selected References

  1. Roessler, E., Ouspenskaia, M. V., Karkera, J. D., Vélez, J. I., Kantipong, A., Lacbawan, F., Bowers, P., Belmont, J. W., Towbin, J. A., Goldmuntz, E., Feldman, B., & Muenke, M. (2008). Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly. The American Journal of Human Genetics, 83(1), 18–29. DOI:10.1016/j.ajhg.2008.05.012 PMID:18538293
  2. De Luca, A., Sarkozy, A., Consoli, F., Ferese, R., Guida, V., Dentici, M. L., Mingarelli, R., Bellacchio, E., Tuo, G., Limongelli, G., Digilio, M. C., Marino, B., & Dallapiccola, B. (2009). Familial transposition of the great arteries caused by multiple mutations in laterality genes. Heart, 96(9), 673–677. DOI:10.1136/hrt.2009.181685 PMID:19933292