HAND1 heart and neural crest derivatives expressed 1

Gene info


eHand, Thing1, Hxt, bHLHa27

Previous symbol


External ID

HGNC: 4807
Entrez Gene: 9421
Ensembl: ENSG00000113196
UCSC: uc003lvn.3
OMIM: 602406
UniProtKB: O96004

Disease info



CHD Phenotype

  • Ventricular septal defect
  • Hypoplastic left heart syndrome

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Heterozygous and 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

No variant passing our criteria was found for HAND1.

Selected References

  1. Reamon-Buettner, S. M., Ciribilli, Y., Inga, A., & Borlak, J. (2008). A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts. Human Molecular Genetics, 17(10), 1397–1405. https://doi.org/10.1093/hmg/ddn027 DOI:10.1093/hmg/ddn027 PMID:18276607
  2. Reamon-Buettner, S. M., Ciribilli, Y., Traverso, I., Kuhls, B., Inga, A., & Borlak, J. (2009). A functional genetic study identifies HAND1 mutations in septation defects of the human heart. Human Molecular Genetics, 18(19), 3567–3578. https://doi.org/10.1093/hmg/ddp305 DOI:10.1093/hmg/ddp305 PMID:19586923
  3. Cheng, Z., Lib, L., Li, Z., Liu, M., Yan, J., Wang, B., & Ma, X. (2012). Two novel HAND1 mutations in Chinese patients with ventricular septal defect. Clinica Chimica Acta, 413(7–8), 675–677. https://doi.org/10.1016/j.cca.2011.10.014 DOI:10.1016/j.cca.2011.10.014 PMID:22032825