Article
Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.
Nature reviews. Nephrology - 1 Aug 2026
Byrne Alicia B, Li Anna S, Chung Edmund Y M, Edoh Enyonam, Dziadzio Hannah, Ajuyah Pamela, Ars Elisabet, Caliskan Yasar, Dirim Ahmet Burak, Elliott Mark D, Gupta Asheeta, Jayasinghe Kushani, Mallett Andrew J, Ratliff Julie C, Sampson Matthew G, Savige Judy, Schlondorff Johannes S, Stark Zornitza, Webb Ryan F, Wilson Parker C, Wongboonsin Janewit, Pollak Martin R, McCarthy Hugh J, Quinlan Catherine, Lennon Rachel
Abstract excerpt
Glomerular diseases are complex conditions, many of which have a genetic basis. However, although some genetic variants can affect glomerular and thereby kidney function, not all identified variants are pathogenic. The process of evaluating genetic and experimental evidence to determine the validity of gene-disease relationships is known as gene curation, and it is critical for the identification of genes that...
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