Targeted gene/phenotype/disorder under study:

GABPB1 gene: OMIM 600610 / Intellectual disability


We have identified a possibly pathogenic de novo variant in the GABPB1 gene in a patient with intellectual disability. This gene has not yet been implicated in human pathology. We are launching a call for collaboration on this gene. Best regards.

Coordinating clinicians

Patrick EDERY – 


Genetics Department, Lyon Hospitals, France

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: No