Gene/phenotype/disorder of interest
MYH10 (OMIM #160776)
Abstract
We are following a patient carrying a missense variant in the MYH10 gene associated with a malformative and neurodevelopmental syndrome. To date, 19 patients have been reported in the literature. We would like to continue the phenotypic and genotypic characterization of the syndrome by establishing a new cohort of patients.
If you are interested in this project, we would greatly appreciate it if you could screen your databases for any patient(s) and/or fetus(es) carrying a rare variant in MYH10 gene classified as pathogenic, likely pathogenic, or of uncertain significance, according to ACMG guidelines.
Coordinating clinicians
- Marie Massier; mmassier@chu-reims.fr
- Véronique Dalstein; vdalstein@chu-reims.fr
Institution
University Hospital of Reims, France
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: N
- Resampling of patients: N
- Linked to a translational/basic research project? Y