Gene/phenotype/disorder of interest
RAB1A (OMIM*179508)
Abstract
RAB1A was recently associated by Rios et al. with diverse phenotypes including hereditary spastic paraplegia, neurodevelopmental disorders, and complex skeletal disorders. The genetic and molecular basis of this phenotypic diversity remains unclear. We seek to better define genotype-phenotype correlations at RAB1A locus through a growing international cohort comprised of the recurrent p.Arg175Ter as well as other variant types (missense, NMD-triggering PTCs, etc). Functional characterization of RAB1A variants in Professor Rios’ lab is ongoing.
Coordinating clinician
Daniel Calame; Daniel.calame@bcm.edu
Institution
Section of Pediatric Neurology & Developmental Neurosciences, Department of Pediatrics, Texas Children’s Hospital, Baylor College of Medicine, Houston, Texas, USA
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? Y