FOXH1 forkhead box H1
- Tetralogy of fallot
- Transposition of the great arteries
Extra Cardiac Phenotype
Mice homozygous for a single point mutation or null allele have CHD
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
No variant passing our criteria was found for FOXH1.
- Roessler, E., Ouspenskaia, M. V., Karkera, J. D., Vélez, J. I., Kantipong, A., Lacbawan, F., … 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
- De Luca, A., Sarkozy, A., Consoli, F., Ferese, R., Guida, V., Dentici, M. L., … 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