Gene/disorder under study
NPAS3 [MIM*609430]
Abstract
The NPAS3 gene has been suggested to be involved in neurodevelopmental disorders (PMID: 33758288). We wish to confirm its role and better define the associated phenotypic spectrum.
To gather clinical and molecular data from patients with de novo variants in NPAS3, with a particular focus on developmental trajectories.
If you are following a patient who meets these criteria and would like to take part in this collaborative study, please contact us.
Coordinating clinicians
Marion AUBERT MUCCA – aubertmucca.m@chu-toulouse.fr
Alban ZIEGLER – ziegler.a@chu-toulouse.fr
Institution
Medical Genetics Department, Toulouse Hospital, Toulouse, 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