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

CHD Phenotype

  • Atrial septal defect
  • Mitral valve prolapse
  • Persistent ductus arteriosus
  • Patent foramen ovale
  • Ventricular septal defect

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.

  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., … Nordgren, A. (2015). Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features. The American Journal of Human Genetics, 96(3), 507–513. 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., … 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. DOI:10.1016/j.ajhg.2015.01.017 PMID:25728775