Targeted gene under study:
WDR13 (OMIM * 300512)
Abstract
WDR13 gene has been proposed as a candidate gene for X-linked intellectual disability. In 2021, Rzońca-Niewczas et al. were the first to describe a patient with an intellectual disability and a nonsense variant in WDR13 gene in depth and to study the effects of alterations in WDR13 gene in human cells. Our goal is to identify further individuals with pathogenic WDR13 variants to better define its phenotypic spectrum.
Coordinating clinicians
Elis Tiivoja – elis.tiivoja@kliinikum.ee
Katrin Õunap – katrin.ounap@kliinikum.ee
Institution
Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No