Targeted gene under study

Genes: RBL2

OMIM: 619690


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 –


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