MESP1 mesoderm posterior bHLH transcription factor 1
- Ventricular septal defect
- Tetralogy of fallot
Extra Cardiac Phenotype
Homozygous null mouse dies by embryonic day 10.5 with growth retardation and 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 MESP1.
- Werner, P., Latney, B., Deardorff, M. A., & Goldmuntz, E. (2016). MESP1 Mutations in Patients with Congenital Heart Defects. Human Mutation, 37(3), 308–314. DOI:10.1002/humu.22947 PMID:26694203
- Lahm, H., Deutsch, M.-A., Dreßen, M., Doppler, S., Werner, A., Hörer, J., … Krane, M. (2013). Mutational analysis of the human MESP1 gene in patients with congenital heart disease reveals a highly variable sequence in exon 1. European Journal of Medical Genetics, 56(11), 591–598. DOI:10.1016/j.ejmg.2013.09.001