Targeted gene under study

BICRA (OMIM #605690), Coffin-Siris Syndrome 12 (OMIM #619325)


We previously described a neurodevelopmental disorder caused by heterozygous variants in BICRA (PMID: 33232675). We have since expanded our cohort, and are looking for additional affected individuals to further delineate the clinical phenotype and to perform functional studies, including episignature development. We are also interested in individuals harboring heterozygous variants in the BICRA homologue BICRAL.

Coordinating clinicians/researchers

Dr. Stefan Barakat –


Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands

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: Yes