Targeted gene under study:
RAB3GAP1 (OMIM * 602536, # 600118; ORPHA: 1387)
RAB3GAP2 (OMIM * 609275, # 614225; ORPHA: 1387)
Abstract
Recessive variants in the Rab GTPase genes, RAB3GAP1 and RAB3GAP2, are associated with Warburg Micro syndrome characterized by neurodevelopmental disorders, microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, corpus callosum dysgenesis, spastic paraplegia, and hypogonadism. Here, we study the genotype-phenotype correlation of Warburg Micro syndrome, focusing on RAB3GAP1 and RAB3GAP2. Any other disease-associated genes for Warburg Micro (RAB18, TBC1D20) may also be of interest.
Coordinating clinicians
Hormos Dafsari – hormos.dafsari@uk-koeln.de
Institution
Department of Pediatrics, University Hospital Cologne, Cologne, Germany.
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: Yes