Alternate gene names: THRAP2, PROSIT240, TRAP240L, KIAA1025
Associated syndromes or conditions: Transposition of the great arteries
Genomic location: 12q24.21

Diagnoses observed in people with changes in the MED13L gene:

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

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 MED13L. Click here to learn more about this opportunity.


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Research Article Summaries:

Below, we've summarized several research articles that include information about MED13L. We hope you find this information helpful! As we learn more from children who have these gene changes, we expect this list of resources and information to grow.

This gene is involved in early development of the heart and brain. In some children, a specific type of heart defect called a "transposition of the great arteries" has been found.

  • Van Haelst et al. (2014)
    Two patients were described with changes in the MED13L gene. The physical characteristics of the patients with the gene changes in this report were mild intellectual disablity (ID), differences in facial features including enlargement of the tongue (“macroglossia”), and loss of muscle strength.

  • Asadollahi et al. (2014)
    In this study, 714 individuals with autism or developmental delay were screened using chromosomal microarray techonology. This type of testing can identify deletions or duplications of genetic information, which may include one or more genes. One child was identified to have a variation in the MED13L gene. This child’s features are described in the 2013 article summary below.

  • Asadollahi et al. (2013)
    This study describes 3 patients with changes in the MED13L gene. Two children had deletions, and one had 3 copies (triplication) of the MED13L gene plus one other gene. All 3 variations in the MED13L were not inherited from either parent (de novo). The 3 children described in this study had some degree of developmental delay and intellectual differences. One child had moderate intellectual disability and another had mild learning disabilities. The children also had different types of heart defects and low muscle tone (called “hypotonia”). Interestingly, the authors believe that there is clinical overlap between the features caused by variations in the MED13L gene and 22q11.2 deletion syndrome because both of these conditions are caused by similar biological/molecular mechanisms.

  • Iossifov et al. (2012)
    In this study, whole-exome sequencing was performed for 343 families from the Simons Simplex Collection (SSC) who had at least one child with a diagnosis of autism. This study identified 350-400 new “candidate” genes that may be related to the features of autism, including MED13L. A change that is believed to cause the gene to not work correctly was identified in one individual and was not inherited from either parent (de novo).


You can also visit SFARI's website to see information for researchers about this gene. SFARIgene: MED13L

Back to: Genetic Changes We're Studying