NKX2-6 NK2 homeobox 6

Gene info


CSX2, NKX4-2

Previous symbol


External ID

HGNC: 32940
Entrez Gene: 137814
Ensembl: ENSG00000180053
UCSC: uc011kzy.3
OMIM: 611770
UniProtKB: A6NCS4

Disease info

CHD Phenotype

  • Ventricular septal defect
  • Tetralogy of fallot
  • Double outlet right ventricle
  • Truncus arteriosus

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: No cardiovascular defect recorded in knockout mice


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 NKX2-6.

Selected References

  1. Heathcote, K., Braybrook, C., Abushaban, L., Guy, M., Khetyar, M. E., Patton, M. A., Carter, N. D., Scambler, P. J., & Syrris, P. (2005). Common arterial trunk associated with a homeodomain mutation of NKX2.6. Human Molecular Genetics, 14(5), 585–593. https://doi.org/10.1093/hmg/ddi055 DOI:10.1093/hmg/ddi055 PMID:15649947
  2. Ta-Shma, A., El-lahham, N., Edvardson, S., Stepensky, P., Nir, A., Perles, Z., Gavri, S., Golender, J., Yaakobi-Simhayoff, N., Shaag, A., Rein, A. J. J. T., & Elpeleg, O. (2014). Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation. Journal of Medical Genetics, 51(4), 268–270. https://doi.org/10.1136/jmedgenet-2013-102100 DOI:10.1136/jmedgenet-2013-102100 PMID:24421281
  3. Zhao, L., Ni, S.-H., Liu, X.-Y., Wei, D., Yuan, F., Xu, L., Xin-Li, Li, R.-G., Qu, X.-K., Xu, Y.-J., Fang, W.-Y., Yang, Y.-Q., & Qiu, X.-B. (2014). Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease. European Journal of Medical Genetics, 57(10), 579–586. https://doi.org/10.1016/j.ejmg.2014.08.005 DOI:10.1016/j.ejmg.2014.08.005 PMID:25195019