KMT2A lysine methyltransferase 2A

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

Download annotation file for KMT2A: BED file

Selected References

1. Bramswig, N. C., Lüdecke, H.-J., Alanay, Y., Albrecht, B., Barthelmie, A., Boduroglu, K., Braunholz, D., Caliebe, A., Chrzanowska, K. H., Czeschik, J. C., Endele, S., Graf, E., Guillén-Navarro, E., Kiper, P. Ö. S., López-González, V., Parenti, I., Pozojevic, J., Utine, G. E., Wieland, T., … Wieczorek, D. (2015). Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes. Human Genetics, 134(6), 553–568. https://doi.org/10.1007/s00439-015-1535-8 DOI:10.1007/s00439-015-1535-8 PMID:25724810
2. Jones, W. D., Dafou, D., McEntagart, M., Woollard, W. J., Elmslie, F. V., Holder-Espinasse, M., Irving, M., Saggar, A. K., Smithson, S., Trembath, R. C., Deshpande, C., & Simpson, M. A. (2012). De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome. The American Journal of Human Genetics, 91(2), 358–364. https://doi.org/10.1016/j.ajhg.2012.06.008 DOI:10.1016/j.ajhg.2012.06.008 PMID:22795537