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
- Ventricular septal defect
- Pulmonic stenosis
- Tetralogy of fallot
- 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.
- 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
Download annotation file for HAND2: BED file
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Selected References
- 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. https://doi.org/10.1080/14737159.2017.1300062 DOI:10.1080/14737159.2017.1300062 PMID:28274167
- Sun, Y.-M., Wang, J., Qiu, X.-B., Yuan, F., Li, R.-G., Xu, Y.-J., Qu, X.-K., Shi, H.-Y., Hou, X.-M., Huang, R.-T., Xue, S., & 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. https://doi.org/10.1534/g3.115.026518 DOI:10.1534/g3.115.026518 PMID:26865696
- LU, C.-X., GONG, H.-R., LIU, X.-Y., WANG, J., ZHAO, C.-M., HUANG, R.-T., XUE, S., & 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. https://doi.org/10.3892/ijmm.2015.2436 DOI:10.3892/ijmm.2015.2436 PMID:26676105