KDM6A lysine demethylase 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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
3. ClinVar review status for the variant is criteria provided

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 in KDM6A. American Journal of Medical Genetics Part A, 164(5), 1289–1292. Portico. 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., 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