Targeted gene under study

SETD1A (OMIM 619056 and 619056, Orphanet number: 528084)


Together with the Dijon team, we aim to better define the clinical, psychiatric and neuropsychological characteristics of people with variant SETD1A, as well as to describe an epigenetic signature.We would be delighted to collect clinical, neuropsychological, Brain MRI data and a DNA sample.We have a positive opinion from the Montpellier IRB (IRB-MTP_2023_05_202201291).

Coordinating clinicians/researchers

David Genevieve –


Centre Hospitalier Universitaire de Montpellier, France

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: No
  • Resampling of patients: No
  • Linked to a translational/basic research project: No