Targeted gene under study

SCAPER (OMIM #  618195)


We are collecting clinical and molecular data from patients with bi-allelic pathogenic variants (SNV or CNV) in SCAPER, for a publication.
If you are interested in participating in this project, please contact us.

Coordinating clinicians/researchers

Charlotte Tardy (Resident) –
Dr Sabine Sigaudy, Dr Missirian Chantal, Dr Svetlana Gorokhova


AP-HM, Hôpital Timone enfants, Marseille  

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