KAT6A lysine acetyltransferase 6A
Gene info
Synonyms
MOZ, ZC2HC6A
Previous symbol
ZNF220, RUNXBP2, MYST3
External ID
HGNC: 13013
Entrez Gene: 7994
Ensembl: ENSG00000083168
UCSC: uc010lxc.3
OMIM:
601408
UniProtKB:
Q92794
Disease info
Disease
CHD Phenotype
- Atrial septal defect
- Ventricular septal defect
- Patent ductus arteriosus
- Patent foramen ovale
Extra Cardiac Phenotype
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
Heterozygous and homozygous null mice have CHD
MGI ID
Variant info
Clinvar
Selected variant
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
Download annotation file for KAT6A: BED file
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Selected References
- 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
- 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