KMT2D lysine methyltransferase 2D
Gene info
Synonyms
ALR, MLL4, CAGL114
Previous symbol
TNRC21, MLL2
External ID
HGNC: 7133
Entrez Gene: 8085
Ensembl: ENSG00000167548
OMIM:
602113
UniProtKB:
O14686
Disease info
Disease
- Kabuki syndrome 1 (AD)
CHD Phenotype
- Atrial septal defect
- Ventricular septal defect
- Bicuspid aortic valve
- Coarctation of the aorta
Extra Cardiac Phenotype
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
Conditional 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.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for KMT2D: BED file
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Selected References
- 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. https://doi.org/10.1002/ajmg.a.34074 DOI:10.1002/ajmg.a.34074 PMID:21671394
- 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. https://doi.org/10.1007/s00439-011-1004-y DOI:10.1007/s00439-011-1004-y PMID:21607748
- 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. https://doi.org/10.1038/ng.646 DOI:10.1038/ng.646 PMID:20711175
- 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. https://doi.org/10.1038/ejhg.2011.220 DOI:10.1038/ejhg.2011.220 PMID:22126750