Purpose: The ClinGen Hearing Loss Gene Curation Expert Panel (GCEP) was assembled in 2016 and has since curated 174 gene-disease relationships (GDRs) using ClinGen's semi-quantitative framework. ClinGen mandates timely recuration of all GDRs classified as Disputed, Limited, Moderate, and Strong, every 2-3 years.
Methods: Thirty-five GDRs met the criteria for recuration within two years of original curation. Previous evidence was reevaluated using the latest curation guidelines and a comprehensive literature review was performed for new evidence. The recurations were approved by the GCEP and published to the ClinGen website (www.clinicalgenome.org).
Results: Eight out of 35 (22%) GDRs changed classification. Two Moderate and five Strong GDRs upgraded to Definitive due to new case evidence. One Strong was subsumed under another Definitive GDR, after evaluation of lumping/splitting of disease entities. Twenty-seven out of 35 remained unchanged with little to no new evidence reported.
Conclusion: Genes classified as Moderate and Strong are likely to build evidence and change in classification over time, whereas Limited are unlikely to gain evidence. These findings also highlight the critical role of recuration in ensuring that genetic tests and research studies incorporate the most up-to-date evidence into their efforts.
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| http://dx.doi.org/10.1016/j.gim.2025.101392 | DOI Listing |
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