Closed
Targeted gene(s)/phenotype under study
Gene: TRA2B (OMIM *602719)
Abstract
TRA2B codes for Transformer-2 protein homolog beta, a factor putatively involved in the control of pre-mRNA splicing. Via international collaborative efforts we are aware of at least 7 index cases carrying different de novo TRA2B variants. All individuals have a developmental delay with variable additional clinical features including seizures, microcephaly, and growth retardation.
We would like to expand the cohort of patients with TRA2B variants in order to delineate the phenotype of this rare disease and are currently planning functional validation of pathogenicity of the variants
Coordinating clinicians/researchers
Tobias Haack
Contact:
Institution
University hospital Tübingen,
Tübingen, Germany
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples : Yes
- Resampling of patients : Yes
- Linked to a translational/basic research project? Yes