HAND1 heart and neural crest derivatives expressed 1

Gene info

Synonyms

eHand, Thing1, Hxt, bHLHa27

Previous symbol

None

External ID

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

Disease info

Disease

None

CHD Phenotype

  • Hypoplastic ventricle
  • Ventricular septal defect

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Heterozygous and homozygous null mice have CHD

MGI ID

Variant info

Clinvar

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. 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. 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. DOI:10.1016/j.cca.2011.10.014 PMID:22032825