Targeted gene/syndrome under study

SETD5 OMIM #615743


Our aim is to retrospectively review the SETD5-related prenatal phenotype, including either ongoing pregnancies in which a pathogenetic variant in SETD5 was found or children diagnosed with a pathogenic SETD5 variant for whom prenatal findings are available. We would also provide a systematic review of the literature to identify studies on the prenatal findings in subjects with SETD5 pathogenic variants. We could also collect data about the postnatal phenotype, in order to evaluate the presence of any correlations.

We attach a spreadsheet to gather clinical information.

Coordinating clinicians/researchers

Maria Francesca Bedeschi, MD –

Berardo Rinaldi, MD –


Medical Genetics Unit, Maternal and Child Department, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico , Milan, Italy

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: N
  • Resampling of patients: N
  • Linked to a translational/basic research project: N