Gene–disease relationships for glomerular phenotypes: expert recommendations from ClinGen
Issued Date
2026-01-01
Resource Type
ISSN
17595061
eISSN
1759507X
Scopus ID
2-s2.0-105039936871
Journal Title
Nature Reviews Nephrology
Rights Holder(s)
SCOPUS
Bibliographic Citation
Nature Reviews Nephrology (2026)
Suggested Citation
Byrne A.B., Li A.S., Chung E.Y.M., Edoh E., Dziadzio H., Ajuyah P., Ars E., Caliskan Y., Dirim A.B., Elliott M.D., Gupta A., Jayasinghe K., Mallett A.J., Ratliff J.C., Sampson M.G., Savige J., Schlondorff J.S., Stark Z., Webb R.F., Wilson P.C., Wongboonsin J., van Eerde A.M., Li A.S., Kim L., Hoefele J., Gbadegesin R., Chung E.Y.M., Bierzynska A., Aypek H., Pollak M.R., McCarthy H.J., Quinlan C., Lennon R. Gene–disease relationships for glomerular phenotypes: expert recommendations from ClinGen. Nature Reviews Nephrology (2026). doi:10.1038/s41581-026-01087-9 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/117041
Title
Gene–disease relationships for glomerular phenotypes: expert recommendations from ClinGen
Author(s)
Byrne A.B.
Li A.S.
Chung E.Y.M.
Edoh E.
Dziadzio H.
Ajuyah P.
Ars E.
Caliskan Y.
Dirim A.B.
Elliott M.D.
Gupta A.
Jayasinghe K.
Mallett A.J.
Ratliff J.C.
Sampson M.G.
Savige J.
Schlondorff J.S.
Stark Z.
Webb R.F.
Wilson P.C.
Wongboonsin J.
van Eerde A.M.
Li A.S.
Kim L.
Hoefele J.
Gbadegesin R.
Chung E.Y.M.
Bierzynska A.
Aypek H.
Pollak M.R.
McCarthy H.J.
Quinlan C.
Lennon R.
Li A.S.
Chung E.Y.M.
Edoh E.
Dziadzio H.
Ajuyah P.
Ars E.
Caliskan Y.
Dirim A.B.
Elliott M.D.
Gupta A.
Jayasinghe K.
Mallett A.J.
Ratliff J.C.
Sampson M.G.
Savige J.
Schlondorff J.S.
Stark Z.
Webb R.F.
Wilson P.C.
Wongboonsin J.
van Eerde A.M.
Li A.S.
Kim L.
Hoefele J.
Gbadegesin R.
Chung E.Y.M.
Bierzynska A.
Aypek H.
Pollak M.R.
McCarthy H.J.
Quinlan C.
Lennon R.
Author's Affiliation
Harvard Medical School
The University of British Columbia
The University of Queensland
Monash University
Brigham and Women's Hospital
University of Bristol
University of Pennsylvania Perelman School of Medicine
Beth Israel Deaconess Medical Center
Boston Children's Hospital
University Medical Center Utrecht
Klinikum der Universität München
Vanderbilt University Medical Center
Duke University School of Medicine
James Cook University
Faculty of Medicine and Health
Royal Children's Hospital, Melbourne
İstanbul Tıp Fakültesi
Broad Institute
Great Ormond Street Hospital for Children NHS Foundation Trust
Murdoch Children's Research Institute
Bursa Uludağ Üniversitesi
Department of Medicine
Siriraj Hospital
Bristol Medical School
John A. Burns School of Medicine
Department of Paediatrics
Monash Health
Royal Manchester Children's Hospital
Fundacio Puigvert
Townsville University Hospital
Melbourne Health
Children’s Health Ireland
Children's Hospital At Westmead, Centre for Kidney Research
Wellcome Trust Centre for Cell-Matrix Research
The University of British Columbia
The University of Queensland
Monash University
Brigham and Women's Hospital
University of Bristol
University of Pennsylvania Perelman School of Medicine
Beth Israel Deaconess Medical Center
Boston Children's Hospital
University Medical Center Utrecht
Klinikum der Universität München
Vanderbilt University Medical Center
Duke University School of Medicine
James Cook University
Faculty of Medicine and Health
Royal Children's Hospital, Melbourne
İstanbul Tıp Fakültesi
Broad Institute
Great Ormond Street Hospital for Children NHS Foundation Trust
Murdoch Children's Research Institute
Bursa Uludağ Üniversitesi
Department of Medicine
Siriraj Hospital
Bristol Medical School
John A. Burns School of Medicine
Department of Paediatrics
Monash Health
Royal Manchester Children's Hospital
Fundacio Puigvert
Townsville University Hospital
Melbourne Health
Children’s Health Ireland
Children's Hospital At Westmead, Centre for Kidney Research
Wellcome Trust Centre for Cell-Matrix Research
Corresponding Author(s)
Other Contributor(s)
Abstract
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 should be examined in diagnostic tests and used to guide clinical management. Gene curation is a key role of the Clinical Genome Resource (ClinGen) and aims to ensure that the evidence underlying asserted gene–disease relationships across a range of diseases is sufficiently robust through comprehensive review of evidence and standardized evaluation by genetic and disease area-specific experts. The ClinGen Glomerulopathy Gene Curation Expert Panel has evaluated 57 gene–disease relationships from 56 genes that have been putatively linked to glomerular phenotypes. This evaluation identified 34 genes that reached a definitive level of evidence for gene–disease clinical validity. Ten genes had moderate supporting evidence and 11 had limited supporting evidence. A further two genes had insufficient evidence for any clinically valid relationship to disease. This curation establishes a comprehensive framework for the ongoing assessment of gene–disease relationships and provides a valuable reference for diagnostic genetic testing panels that target glomerular disease.