This website provides information on patients with variants in the RBM10 gene, including clinical data, molecular data, management and research options.
TARP syndrome (OMIM #311900) is caused by pathogenic variants in the RBM10 gene; it is an X-linked multisystem disorder characterized by neurodevelopmental delays, CNS anomalies, cardiac anomalies, renal anomalies, distal limb defects, micrognathia, cleft palate (Robin sequence), and a recently characterized recognizable facial gestalt. TARP syndrome is a highly variable condition clinically, and not all individuals with a pathogenic variant in RBM10 share a common set of findings.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with suspected pathogenic variants in the RBM10 gene.
John C. Carey, MD, MPH, Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA, John.Carey@hsc.utah.edu
Colleen M. Carlston, PhD, School of Medicine, University of California San Francisco, San Francisco, CA, USA, Colleen.Carlston@ucsf.edu