HAND1 heart and neural crest derivatives expressed 1
eHand, Thing1, Hxt, bHLHa27
- Ventricular septal defect
- Hypoplastic left heart syndrome
Extra Cardiac Phenotype
Heterozygous and homozygous null mice have 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 HAND1.
- 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
- 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
- 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