KAT6B lysine acetyltransferase 6B

Gene info


querkopf, qkf, Morf, MOZ2, ZC2HC6B

Previous symbol


External ID

HGNC: 17582
Entrez Gene: 23522
Ensembl: ENSG00000156650
UCSC: uc001jwn.3
OMIM: 605880
UniProtKB: Q8WYB5

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Patent foramen ovale

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: no cardiovascular defect recorded


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 KAT6B: BED file

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Selected References

  1. Campeau, Kim, J. C., Lu, J. T., Schwartzentruber, J. A., Abdul-Rahman, O. A., Schlaubitz, S., Murdock, D. M., Jiang, M.-M., Lammer, E. J., Enns, G. M., Rhead, W. J., Rowland, J., Robertson, S. P., Cormier-Daire, V., Bainbridge, M. N., Yang, X.-J., Gingras, M.-C., Gibbs, R. A., Rosenblatt, D. S., … Lee, B. H. (2012). Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome. The American Journal of Human Genetics, 90(2), 282–289. https://doi.org/10.1016/j.ajhg.2011.11.023 DOI:10.1016/j.ajhg.2011.11.023 PMID:22265014
  2. Szakszon, Salpietro, C., Kakar, N., Knegt, A. C., Oláh, É., Dallapiccola, B., & Borck, G. (2013). De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. American Journal of Medical Genetics Part A, 161(4), 884–888. https://doi.org/10.1002/ajmg.a.35848 DOI:10.1002/ajmg.a.35848
  3. Clayton-Smith, O’Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., Kerr, B., Tassabehji, M., Lynch, S.-A., Krajewska-Walasek, M., McKee, S., Smith, J., Sweeney, E., … Black, G. (2011). Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome. The American Journal of Human Genetics, 89(5), 675–681. https://doi.org/10.1016/j.ajhg.2011.10.008 DOI:10.1016/j.ajhg.2011.10.008 PMID:22077973
  4. Simpson, Deshpande, C., Dafou, D., Vissers, L. E. L. M., Woollard, W. J., Holder, S. E., Gillessen-Kaesbach, G., Derks, R., White, S. M., Cohen-Snuijf, R., Kant, S. G., Hoefsloot, L. H., Reardon, W., Brunner, H. G., Bongers, E. M. H. F., & Trembath, R. C. (2012). De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome. The American Journal of Human Genetics, 90(2), 290–294. https://doi.org/10.1016/j.ajhg.2011.11.024 DOI:10.1016/j.ajhg.2011.11.024 PMID:22265017