HAND2 heart and neural crest derivatives expressed 2

Gene info

Synonyms

dHand, Thing2, Hed, bHLHa26

Previous symbol

None

External ID

HGNC: 4808
Entrez Gene: 9464
Ensembl: ENSG00000164107
UCSC: uc003ith.2
OMIM: 602407
UniProtKB: P61296

Disease info

Disease

None

CHD Phenotype

  • Tetralogy of fallot
  • Ventricular septal defect
  • Pulmonary stenosis
  • Double outlet right ventricle

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Homozygous null mouse has 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

Download annotation file for HAND2: BED file

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Selected References

  1. Li, Y.-J., & Yang, Y.-Q. (2017). An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations. Expert Review of Molecular Diagnostics, 17(4), 393–401. DOI:10.1080/14737159.2017.1300062 PMID:28274167
  2. Sun, Y.-M., Wang, J., Qiu, X.-B., Yuan, F., Li, R.-G., Xu, Y.-J., … Yang, Y.-Q. (2016). A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis. G3: Genes|Genomes|Genetics, 6(4), 987–992. DOI:10.1534/g3.115.026518 PMID:26865696
  3. LU, C.-X., GONG, H.-R., LIU, X.-Y., WANG, J., ZHAO, C.-M., HUANG, R.-T., … YANG, Y.-Q. (2015). A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot. International Journal of Molecular Medicine, 37(2), 445–451. DOI:10.3892/ijmm.2015.2436 PMID:26676105