RBFOX2 RNA binding fox-1 homolog 2
HNRBP2, FOX-2, HRNBP2
- Hypoplastic left heart syndrome
Extra Cardiac Phenotype
MGI: no cardiovascular defect recorded
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 RBFOX2.
- Verma, S. K., Deshmukh, V., Nutter, C. A., Jaworski, E., Jin, W., Wadhwa, L., … Kuyumcu-Martinez, M. N. (2016). Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts. Scientific Reports, 6(1). DOI:10.1038/srep30896 PMID:27485310
- Homsy, J., Zaidi, S., Shen, Y., Ware, J. S., Samocha, K. E., Karczewski, K. J., … Chung, W. K. (2015). De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science, 350(6265), 1262–1266. DOI:10.1126/science.aac9396 PMID:26785492