KAT6A lysine acetyltransferase 6A

Gene info



Previous symbol


External ID

HGNC: 13013
Entrez Gene: 7994
Ensembl: ENSG00000083168
UCSC: uc010lxc.3
OMIM: 601408
UniProtKB: Q92794

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: Heterozygous and homozygous knockout mice have CHD


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 KAT6A: BED file

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Selected References

  1. Tham, E., Lindstrand, A., Santani, A., Malmgren, H., Nesbitt, A., Dubbs, H. A., Zackai, E. H., Parker, M. J., Millan, F., Rosenbaum, K., Wilson, G. N., & Nordgren, A. (2015). Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features. The American Journal of Human Genetics, 96(3), 507–513. https://doi.org/10.1016/j.ajhg.2015.01.016 DOI:10.1016/j.ajhg.2015.01.016 PMID:25728777
  2. Arboleda, V. A., Lee, H., Dorrani, N., Zadeh, N., Willis, M., Macmurdo, C. F., Manning, M. A., Kwan, A., Hudgins, L., Barthelemy, F., Miceli, M. C., Quintero-Rivera, F., Kantarci, S., Strom, S. P., Deignan, J. L., Grody, W. W., Vilain, E., & Nelson, S. F. (2015). De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay. The American Journal of Human Genetics, 96(3), 498–506. https://doi.org/10.1016/j.ajhg.2015.01.017 DOI:10.1016/j.ajhg.2015.01.017 PMID:25728775