FOXH1 forkhead box H1

Gene info

Synonyms

forkhead activin signal transducer-1

Previous symbol

None

External ID

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

Disease info

Disease

None

CHD Phenotype

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

Extra Cardiac Phenotype

Incomplete penetrance

Yes

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

1347465

Variant info

Clinvar

FOXH1

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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

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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. https://doi.org/10.1016/j.ajhg.2008.05.012 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. https://doi.org/10.1136/hrt.2009.181685 DOI:10.1136/hrt.2009.181685 PMID:19933292