NKX2-6 NK2 homeobox 6

Gene info

Synonyms

CSX2, NKX4-2

Previous symbol

None

External ID

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

Disease info

CHD Phenotype

  • Double outlet right ventricle
  • Persistent truncus arteriosus
  • Tetralogy of fallot
  • Ventricular septal defect
  • Complex conotruncal defect

Extra Cardiac Phenotype

None

Incomplete penetrance

No

Variable expressivity

Yes

Animal model

Mouse study

MGI: no cardiovascular defect recorded

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 NKX2-6.

Selected References

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