Alternate gene names: JMJD3, KIAA0346
Associated syndromes or conditions: none
Genomic location: 17p13.1

Diagnoses observed in people with changes in the KDM6B gene:

  • Autism Spectrum Disorder - Yes
  • Intellectual Disability or Developmental Delay - No
  • Epilepsy or Seizures - No
  • Attention Deficit Hyperactivity Disorder - No
  • Schizophrenia - No
  • Bipolar Disorder - No

Support Resources:

Research Opportunities:

In addition to the opportunity to participate in research with Simons VIP, you may be interested in other opportunties.

  • TIGER Study: The University of Washington’s Autism Center is performing a study to better understand the medical, learning, and behavioral features of individuals with changes in KDM6B.
    Click here to learn more about this opportunity.



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

  • Coming Soon!  

 You can also visit SFARI's website to see information for researchers about this gene. SFARIgene: KDM6B

Back to: Genetic Changes We're Studying