KDM6A lysine demethylase 6A

Gene info



Previous symbol


External ID

HGNC: 12637
Entrez Gene: 7403
Ensembl: ENSG00000147050
UCSC: uc004dge.5
OMIM: 300128
UniProtKB: O15550

Disease info


CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Pulmonic stenosis
  • Hypoplastic right ventricle

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Homozygous knockout and male mice with knockout allele 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 KDM6A: BED file

Genome browser powered by igv.js

Selected References

  1. Miyake, N., Mizuno, S., Okamoto, N., Ohashi, H., Shiina, M., Ogata, K., Tsurusaki, Y., Nakashima, M., Saitsu, H., Niikawa, N., & Matsumoto, N. (2012). KDM6A Point Mutations Cause Kabuki Syndrome. Human Mutation, 34(1), 108–110. https://doi.org/10.1002/humu.22229 DOI:10.1002/humu.22229 PMID:23076834
  2. Lederer, D., Shears, D., Benoit, V., Verellen-Dumoulin, C., & Maystadt, I. (2014). A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation inKDM6A. American Journal of Medical Genetics Part A, 164(5), 1289–1292. https://doi.org/10.1002/ajmg.a.36442 DOI:10.1002/ajmg.a.36442 PMID:24664873
  3. Miyake, N., Koshimizu, E., Okamoto, N., Mizuno, S., Ogata, T., Nagai, T., Kosho, T., Ohashi, H., Kato, M., Sasaki, G., Mabe, H., Watanabe, Y., Yoshino, M., Matsuishi, T., Takanashi, J.-I., Shotelersuk, V., Tekin, M., Ochi, N., Kubota, M., … Niikawa, N. (2013). MLL2 and KDM6A mutations in patients with Kabuki syndrome. American Journal of Medical Genetics Part A, 161(9), 2234–2243. Portico. https://doi.org/10.1002/ajmg.a.36072 DOI:10.1002/ajmg.a.36072 PMID:23913813