Article
Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2026
Edoh Enyonam Y A, Mighton Chloe, Broeren Eleanor C, Gitau Vanessa N, Ratliff Julie, DiStefano Marina T, Gadalla Sandra, Girod Amanda, Hughes Madeline Y, McCurry Hannah, Patel Mayher J, Wilcox Emma H, Mohammadi Moosa, Paschal Cate R, Spector Elaine, Wilkie Andrew O M, Zackai Elaine, Zarate Yuri A, Graham John M, Jabs Ethylin Wang, Sanchez-Lara Pedro A
Abstract excerpt
PURPOSE: The Clinical Genome Resource Craniofacial Malformations Gene Curation Expert Panel (Cranio GCEP) was formed in 2020 with an initial target of evaluating genes implicated in craniosynostosis and skull abnormalities. The current work summarizes the findings of the Cranio GCEP during its first round of curation and aims to provide expert guidance on the clinical validity of gene-disease relationships in the...
Read the complete abstract on PubMedTopics
- Humans
- Craniosynostoses
- Databases, Genetic
- Genetic Testing