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Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework.

Enyonam Edoh1, Chloe Mighton1, Eleanor Broeren1

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Genetics in Medicine : Official Journal of the American College of Medical Genetics
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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.

Keywords:
ClinGenCraniosynostosiscraniofacial malformationsgene-disease validitygenomic medicine

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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.