Alternate gene names: MLL5
Associated syndromes or conditions: none
Genomic location: 7q22.3

Diagnoses observed in people with changes in the KMT2E gene:

Autism Spectrum Disorder


Attention Deficit Hyperactive Disorder


Intellectual Disability or Developmental Delay




Epilepsy / Seizures


Bipolar Disorder

Research Article Summaries: As we learn more from children who have these gene changes, we expect this list of resources and information to grow.

  • This gene plays an important role in "chromatin remodeling," like many of the other genes studied by Simons VIP.




Support Resources:

You can also visit SFARI's website to see information for researchers about this gene. SFARIgene: KMT2E

Back to: Genetic Changes We're Studying