MESP1 mesoderm posterior bHLH transcription factor 1

Gene info


MGC10676, bHLHc5

Previous symbol


External ID

HGNC: 29658
Entrez Gene: 55897
Ensembl: ENSG00000166823
UCSC: uc002bol.4
OMIM: 608689
UniProtKB: Q9BRJ9

Disease info



CHD Phenotype

  • Ventricular septal defect
  • Tetralogy of fallot

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Homozygous knockout mouse dies by embryonic day 10.5 with growth retardation and 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

No variant passing our criteria was found for MESP1.

Selected References

  1. Werner, P., Latney, B., Deardorff, M. A., & Goldmuntz, E. (2016). MESP1 Mutations in Patients with Congenital Heart Defects. Human Mutation, 37(3), 308–314. Portico. DOI:10.1002/humu.22947 PMID:26694203
  2. Lahm, H., Deutsch, M.-A., Dreßen, M., Doppler, S., Werner, A., Hörer, J., Cleuziou, J., Schreiber, C., Böhm, J., Laugwitz, K.-L., Lange, R., & 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 PMID:24056064