NKX2-6 NK2 homeobox 6
- Ventricular septal defect
- Tetralogy of fallot
- Double outlet right ventricle
- Truncus arteriosus
Extra Cardiac Phenotype
MGI: no cardiovascular defect recorded
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
No variant passing our criteria was found for NKX2-6.
- 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
- 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
- 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