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Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework
Enyonam Edoh1, Chloe Mighton1, Eleanor Broeren1
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Summary
The ClinGen Craniofacial Malformations Gene Curation Expert Panel (Cranio GCEP) evaluated 12 genes linked to craniosynostosis. Most gene-disease relationships were definitively classified, improving clinical validity for craniofacial malformations.
Area of Science:
- Genetics
- Medical Genetics
- Genomic Medicine
Background:
- The ClinGen Craniofacial Malformations Gene Curation Expert Panel (Cranio GCEP) was established to evaluate genes associated with craniosynostosis and skull abnormalities.
- Expert guidance is crucial for determining the clinical validity of gene-disease relationships in craniofacial malformations.
Purpose of the Study:
- To summarize the findings of the Cranio GCEP's first round of gene curation.
- To provide expert guidance on the clinical validity of gene-disease relationships for craniofacial malformations.
Main Methods:
- The curation scope was divided into rounds based on feature frequency and uniqueness.
- Twelve genes implicated in craniofacial malformations were selected through literature review, GTR panels, and expert input.
- Gene-disease relationships were curated and classified based on established criteria.
Main Results:
- A total of 23 gene-disease pairs were curated across 12 genes.
- An average of two disease relationships were identified per gene.
- Classifications included 17 Definitive (74%), 3 Moderate (13%), and 3 Limited (13%) gene-disease relationships.
Conclusions:
- The first round of Cranio GCEP curation systematically evaluated gene-disease validity for craniofacial malformations.
- These findings aid in establishing accurate genetic testing panels and improving patient care.
- The Cranio GCEP fosters collaboration and encourages case publications to reflect the evolving understanding of craniofacial malformation genetics.
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