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Updated: May 23, 2026
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In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen
Alicia B Byrne1, Anna S Li2, Edmund Y M Chung3
1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Nature Reviews. Nephrology
|May 21, 2026
Summary
The Clinical Genome Resource (ClinGen) expert panel evaluated gene-disease links for glomerular diseases. They confirmed 34 genes with definitive evidence, aiding diagnostic testing and clinical management.
Area of Science:
- Nephrology
- Genetics
- Genomics
Background:
- Glomerular diseases often have a genetic origin, but not all genetic variants are pathogenic.
- Accurate gene curation is essential for identifying reliable genetic markers for diagnosis and treatment of kidney diseases.
- The Clinical Genome Resource (ClinGen) standardizes gene curation to ensure robust evidence for gene-disease relationships.
Purpose of the Study:
- To evaluate the clinical validity of gene-disease relationships in glomerular diseases.
- To establish a framework for assessing genetic factors in kidney conditions.
- To provide a reference for genetic testing in glomerular disorders.
Main Methods:
- The ClinGen Glomerulopathy Gene Curation Expert Panel reviewed 57 gene-disease relationships involving 56 genes.
- Standardized evidence evaluation by genetic and disease experts was employed.
- Gene-disease assertions were classified based on the level of supporting evidence.
Main Results:
- 34 genes demonstrated definitive evidence for clinical validity in relation to glomerular diseases.
- 10 genes had moderate supporting evidence, and 11 had limited supporting evidence.
- 2 genes showed insufficient evidence for a clinically valid relationship.
Conclusions:
- This curation provides a robust framework for assessing gene-disease links in glomerular conditions.
- The findings offer a valuable reference for developing genetic testing panels for kidney diseases.
- Confirmed gene-disease relationships will improve diagnostic accuracy and guide clinical management strategies.
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