Closed
Targeted gene under study
Genes: RBL2
OMIM: 619690
Abstract
Biallelic loss of function (LOF) variants in RBL2 have recently been associated with a recessive neurodevelopmental syndrome. However, until now only 4 independent families across 3 different reports have been published. We have identified a relatively large cohort of over 15 families with biallelic LOF variants in last 4 years. The aim of this project is to identify new patients with biallelic LOF variants in RBL2 and further delineate the phenotypic and genetic spectrum of this new ultra-rare NDD.
Coordinating clinicians/researchers
Reza Maroofian – r.maroofian@ucl.ac.uk
Institution
University College London, London, UK
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: No