Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework
Authors' conclusion
Among these 26 GDRs, the ClinGen Skeletal Disorders Gene Curation Expert Panel determined that 22 (84.6%) had definitive relationships, 2 (7.7%) had moderate relationships, and 2 (7.7%) had limited relationships. None of the 26 GDRs were disputed or refuted.
Study context
- Population
- 9 genes (COL1A1, COL1A2, COL2A1, FGFR3, SLC26A2, TRPV4, COMP, ALPL, SOX9) accounting for the most frequently encountered skeletal dysplasias, associated in the literature with 26 skeletal disorders9 genes · 26 gene-disease relationships (GDRs)
- Outcome
- Strength of evidence (clinical validity) of gene-disease relationships (GDRs)
Methodological detailssemi-quantitative scoring framework, ClinGen gene curation framework, Curations published on the ClinGen website
- Semi-quantitative scoring framework
- ClinGen gene curation framework
- Curations published on the ClinGen website
Main finding
As reported in the abstract
Classification of 26 GDRs
Definitive relationships
22
84.6%
Moderate relationships
2
7.7%
Limited relationships
2
7.7%
Disputed or refuted GDRs
0
Original publication
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework. J Bone Miner Res. Published 28 November 2025. doi:10.
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