FOXP1 forkhead box P1

Gene info


QRF1, 12CC4, HSPC215, hFKH1B

Previous symbol


External ID

HGNC: 3823
Entrez Gene: 27086
Ensembl: ENSG00000114861
UCSC: uc003dop.4
OMIM: 605515
UniProtKB: Q9H334

Disease info

CHD Phenotype

  • Atrial septal defect
  • Atrioventricular septal defect
  • Patent ductus arteriosus
  • Pulmonic stenosis
  • Hypoplastic left heart syndrome

Extra Cardiac Phenotype

Facial dysmorphism, Neurodevelopmental delay, Autistic features, Ophthalmological abnormalities, Genitourinary abnormalities

Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Homozygous knockout mice 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 FOXP1: BED file

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Selected References

  1. Chang, S.-W., Mislankar, M., Misra, C., Huang, N., DaJusta, D. G., Harrison, S. M., McBride, K. L., Baker, L. A., & Garg, V. (2013). Genetic Abnormalities inFOXP1Are Associated with Congenital Heart Defects. Human Mutation, 34(9), 1226–1230. DOI:10.1002/humu.22366 PMID:23766104
  2. Siper, P. M., De Rubeis, S., Trelles, M. del P., Durkin, A., Di Marino, D., Muratet, F., Frank, Y., Lozano, R., Eichler, E. E., Kelly, M., Beighley, J., Gerdts, J., Wallace, A. S., Mefford, H. C., Bernier, R. A., Kolevzon, A., & Buxbaum, J. D. (2017). Prospective investigation of FOXP1 syndrome. Molecular Autism, 8(1). DOI:10.1186/s13229-017-0172-6 PMID:29090079