KMT2D lysine methyltransferase 2D

Gene info



Previous symbol


External ID

HGNC: 7133
Entrez Gene: 8085
Ensembl: ENSG00000167548
OMIM: 602113
UniProtKB: O14686

Disease info


CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Bicuspid aortic valve
  • Coarctation of the aorta

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Conditional homozygous knockout mice 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 KMT2D: BED file

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Selected References

  1. Hannibal, M. C., Buckingham, K. J., Ng, S. B., Ming, J. E., Beck, A. E., McMillin, M. J., Gildersleeve, H. I., Bigham, A. W., Tabor, H. K., Mefford, H. C., Cook, J., Yoshiura, K., Matsumoto, T., Matsumoto, N., Miyake, N., Tonoki, H., Naritomi, K., Kaname, T., Nagai, T., … Bamshad, M. J. (2011). Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. American Journal of Medical Genetics Part A, 155(7), 1511–1516. DOI:10.1002/ajmg.a.34074 PMID:21671394
  2. Li, Y., Bögershausen, N., Alanay, Y., Simsek Kiper, P. Ö., Plume, N., Keupp, K., Pohl, E., Pawlik, B., Rachwalski, M., Milz, E., Thoenes, M., Albrecht, B., Prott, E.-C., Lehmkühler, M., Demuth, S., Utine, G. E., Boduroglu, K., Frankenbusch, K., Borck, G., … Wollnik, B. (2011). A mutation screen in patients with Kabuki syndrome. Human Genetics, 130(6), 715–724. DOI:10.1007/s00439-011-1004-y PMID:21607748
  3. Ng, S. B., Bigham, A. W., Buckingham, K. J., Hannibal, M. C., McMillin, M. J., Gildersleeve, H. I., Beck, A. E., Tabor, H. K., Cooper, G. M., Mefford, H. C., Lee, C., Turner, E. H., Smith, J. D., Rieder, M. J., Yoshiura, K., Matsumoto, N., Ohta, T., Niikawa, N., Nickerson, D. A., … Shendure, J. (2010). Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nature Genetics, 42(9), 790–793. DOI:10.1038/ng.646 PMID:20711175
  4. Banka, S., Veeramachaneni, R., Reardon, W., Howard, E., Bunstone, S., Ragge, N., Parker, M. J., Crow, Y. J., Kerr, B., Kingston, H., Metcalfe, K., Chandler, K., Magee, A., Stewart, F., McConnell, V. P. M., Donnelly, D. E., Berland, S., Houge, G., Morton, J. E., … Donnai, D. (2011). How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. European Journal of Human Genetics, 20(4), 381–388. DOI:10.1038/ejhg.2011.220 PMID:22126750