FOXP1 forkhead box P1

Gene info

Synonyms

QRF1, 12CC4, HSPC215, hFKH1B

Previous symbol

None

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

Yes

Variable expressivity

Unknown

Animal model

Mouse study

Homozygous null mice have CHD

MGI ID

Variant info

Clinvar

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., … 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., … Buxbaum, J. D. (2017). Prospective investigation of FOXP1 syndrome. Molecular Autism, 8(1). DOI:10.1186/s13229-017-0172-6 PMID:29090079