Targeted gene under study:



We are gathering a series of patients carrying biallelic variants in TM2D3 associated with intellectual disability and malformations. A functional research project is ongoing at CHU Angers by Dr Olivier Baris. 
We are looking for other patients carrying a missense variant (specially p.168Asp or p.Thr226Met) associated with a loss-of-function variant. Do not hesitate to contact us for a collaboration.

Coordinating clinician

Mathilde Nizon –        


Genetics Department, CHU Nantes, Nantes, 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: Yes