KAT6A lysine acetyltransferase 6A

Gene info

Disease info

Animal model

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

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