KMT2A lysine methyltransferase 2A

Gene info

Synonyms

TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A

Previous symbol

MLL

External ID

HGNC: 7132
Entrez Gene: 4297
Ensembl: ENSG00000118058
OMIM: 159555
UniProtKB: Q03164

Disease info

CHD Phenotype

  • Persistent ductus arteriosus
  • Mitral valve prolapse
  • Atrial septal defect

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Homozygotes for targeted null mutations die at embryonic day 11.5-14.5

MGI ID

Variant info

Clinvar

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

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Selected References

  1. Bramswig, N. C., Lüdecke, H.-J., Alanay, Y., Albrecht, B., Barthelmie, A., Boduroglu, K., … 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. 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., … Simpson, M. A. (2012). De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome. The American Journal of Human Genetics, 91(2), 358–364. DOI:10.1016/j.ajhg.2012.06.008 PMID:22795537