ANKRD11 ankyrin repeat domain 11

Gene info


LZ16, T13

Previous symbol


External ID

HGNC: 21316
Entrez Gene: 29123
Ensembl: ENSG00000167522
UCSC: uc002fmx.3
OMIM: 611192
UniProtKB: Q6UB99

Disease info


CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Atrioventricular septal defect
  • Aortic stenosis
  • Mitral stenosis

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

Download annotation file for ANKRD11: BED file

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Selected References

  1. Novara, F., Rinaldi, B., Sisodiya, S. M., Coppola, A., Giglio, S., Stanzial, F., Benedicenti, F., Donaldson, A., Andrieux, J., Stapleton, R., Weber, A., Reho, P., van Ravenswaaij-Arts, C., Kerstjens-Frederikse, W. S., Vermeesch, J. R., Devriendt, K., Bacino, C. A., Delahaye, A., Maas, S. M., … Zuffardi, O. (2017). Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. European Journal of Human Genetics, 25(6), 694–701. DOI:10.1038/ejhg.2017.49 PMID:28422132
  2. Miyatake, S., Okamoto, N., Stark, Z., Nabetani, M., Tsurusaki, Y., Nakashima, M., Miyake, N., Mizuguchi, T., Ohtake, A., Saitsu, H., & Matsumoto, N. (2017). ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome. Journal of Human Genetics, 62(8), 741–746. DOI:10.1038/jhg.2017.24 PMID:28250421
  3. Ockeloen, C. W., Willemsen, M. H., de Munnik, S., van Bon, B. W., de Leeuw, N., Verrips, A., Kant, S. G., Jones, E. A., Brunner, H. G., van Loon, R. L., Smeets, E. E., van Haelst, M. M., van Haaften, G., Nordgren, A., Malmgren, H., Grigelioniene, G., Vermeer, S., Louro, P., Ramos, L., … Kleefstra, T. (2014). Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. European Journal of Human Genetics, 23(9), 1176–1185. DOI:10.1038/ejhg.2014.253 PMID:25424714