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Published on: October 11, 2018
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Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework
Ryan F Webb1, Hannah McCurry1, Amanda Girod1
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States.
Summary
The ClinGen Skeletal Disorders Gene Curation Expert Panel definitively linked nine key genes to skeletal dysplasias. This genetic evidence strengthens diagnostic panels for skeletal diseases.
Area of Science:
- Genetics
- Skeletal Biology
- Clinical Diagnostics
Background:
- Over 770 genetic skeletal disorders are known, linked to more than 550 genes.
- Accurate gene-disease relationship data is crucial for clinical genetic testing panels.
- The ClinGen Skeletal Disorders Gene Curation Expert Panel aims to validate these relationships.
Purpose of the Study:
- To assess the clinical validity of gene-disease relationships for common skeletal dysplasias.
- To evaluate nine specific genes (COL1A1, COL1A2, COL2A1, FGFR3, SLC26A2, TRPV4, COMP, ALPL, SOX9) implicated in skeletal disorders.
- To inform clinical testing laboratories about reliable gene targets for diagnostic panels.
Main Methods:
- Utilized a semi-quantitative scoring framework developed by ClinGen.
- Reviewed medical literature for nine genes associated with 26 distinct skeletal disorders.
- Assessed the strength of evidence for each gene-disease association.
Main Results:
- All nine genes showed definitive associations with at least one skeletal disorder.
- Out of 26 evaluated gene-disease relationships, 22 (84.6%) were classified as Definitive.
- Two relationships were classified as Moderate and two as Limited, requiring further data for confirmation.
Conclusions:
- The ClinGen Skeletal Disorders Gene Curation Expert Panel established definitive links between nine genes and skeletal disorders.
- The findings enhance the accuracy and reliability of genetic testing for skeletal diseases.
- Further research is needed to upgrade Moderate and Limited gene-disease relationships to Definitive status.
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