EHMT1 euchromatic histone lysine methyltransferase 1

Gene info


Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D, FLJ40292

Previous symbol


External ID

HGNC: 24650
Entrez Gene: 79813
Ensembl: ENSG00000181090
UCSC: uc011mfc.3
OMIM: 607001
UniProtKB: Q9H9B1

Disease info


CHD Phenotype

  • Ventricular septal defect
  • Bicuspid aortic valve

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Mouse with cardiomyocyte-specific conditional knockout has 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 EHMT1: BED file

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Selected References

  1. Kleefstra, T., Brunner, H. G., Amiel, J., Oudakker, A. R., Nillesen, W. M., Magee, A., Geneviève, D., Cormier-Daire, V., van Esch, H., Fryns, J.-P., Hamel, B. C. J., Sistermans, E. A., de Vries, B. B. A., & van Bokhoven, H. (2006). Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome. The American Journal of Human Genetics, 79(2), 370–377. DOI:10.1086/505693 PMID:16826528
  2. Kleefstra, T., van Zelst-Stams, W. A., Nillesen, W. M., Cormier-Daire, V., Houge, G., Foulds, N., van Dooren, M., Willemsen, M. H., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., Rauch, A., Zenker, M., Adam, M. P., Innes, M., Davies, C., Lopez, A. G.-M., Casalone, R., … Brunner, H. G. (2009). Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics, 46(9), 598–606. DOI:10.1136/jmg.2008.062950 PMID:19264732