Closed
Targeted gene/phenotype/disorder under study:
GABPB1 gene: OMIM 600610 / Intellectual disability
Abstract
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 – patrick.edery@chu-lyon.fr
Institution
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