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Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.

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Title: Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.
Authors: Byrne AB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Li AS; Manchester Cell-Matrix Centre, Division of Cell-Matrix Biology and Regenerative Medicine, University of Manchester, Manchester, UK., Chung EYM; The Centre for Kidney Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia., Edoh E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Dziadzio H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ajuyah P; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ars E; Molecular Biology Laboratory, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 renal, ERKNet Reference Centre, Barcelona, Spain., Caliskan Y; Division of Nephrology, Vanderbilt University Medical Center, Nashville, TN, USA., Dirim AB; Department of Internal Medicine, Division of Nephrology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Elliott MD; Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada., Gupta A; Department of Nephrology, Great Ormond Street Hospital, London, UK.; Department of Translational Health Sciences, University of Bristol, Bristol, UK., Jayasinghe K; Department of Nephrology, Monash Health, Melbourne, Victoria, Australia.; Department of Clinical Genetics, Melbourne Health, Melbourne, Victoria, Australia.; Department of Medicine, Monash University, Melbourne, Victoria, Australia., Mallett AJ; College of Medicine and Dentistry, James Cook University, Townsville, Queensland, Australia.; Department of Renal Medicine, Townsville University Hospital, Townsville, Queensland, Australia.; Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia., Ratliff JC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Sampson MG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pediatric Nephrology, Boston Children's Hospital, Boston, MA, USA.; Pediatrics and Medicine, Harvard Medical School, Boston, MA, USA.; Kidney Disease Initiative and Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA, USA.; Division of Nephrology, Brigham and Women's Hospital, Boston, MA, USA., Savige J; Department of Medicine (Melbourne Health and Northern Health), University of Melbourne, Melbourne, Victoria, Australia., Schlondorff JS; Division of Renal-Electrolyte and Hypertension, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Webb RF; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wilson PC; Department of Pathology and Laboratory Medicine, Division of Diagnostic Innovation, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Wongboonsin J; Division of Nephrology, Brigham and Women's Hospital, Boston, MA, USA.; Department of Internal Medicine, Renal Division, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand., Pollak MR; Kidney Disease Initiative and Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA, USA.; Division of Nephrology, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Medicine, Harvard Medical School, Boston, MA, USA., McCarthy HJ; The Centre for Kidney Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia., Quinlan C; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Nephrology, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Kidney Regeneration, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Nephrology, Children's Health Ireland, Dublin, Ireland., Lennon R; Manchester Cell-Matrix Centre, Division of Cell-Matrix Biology and Regenerative Medicine, University of Manchester, Manchester, UK. Rachel.Lennon@manchester.ac.uk.; Department of Paediatric Nephrology, Royal Manchester Children's Hospital, Manchester, UK. Rachel.Lennon@manchester.ac.uk.
Corporate Authors: ClinGen Glomerulopathy Gene Curation Expert Panel
Source: Nature reviews. Nephrology [Nat Rev Nephrol] 2026 Aug; Vol. 22 (8), pp. 575-588. Date of Electronic Publication: 2026 May 21.
Publication Type: Journal Article; Review
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101500081 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1759-507X (Electronic) Linking ISSN: 17595061 NLM ISO Abbreviation: Nat Rev Nephrol Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Byrne+AB%22">Byrne AB</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Li+AS%22">Li AS</searchLink>; Manchester Cell-Matrix Centre, Division of Cell-Matrix Biology and Regenerative Medicine, University of Manchester, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Chung+EYM%22">Chung EYM</searchLink>; The Centre for Kidney Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Edoh+E%22">Edoh E</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Dziadzio+H%22">Dziadzio H</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ajuyah+P%22">Ajuyah P</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ars+E%22">Ars E</searchLink>; Molecular Biology Laboratory, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 renal, ERKNet Reference Centre, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Caliskan+Y%22">Caliskan Y</searchLink>; Division of Nephrology, Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Dirim+AB%22">Dirim AB</searchLink>; Department of Internal Medicine, Division of Nephrology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Elliott+MD%22">Elliott MD</searchLink>; Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.<br /><searchLink fieldCode="AU" term="%22Gupta+A%22">Gupta A</searchLink>; Department of Nephrology, Great Ormond Street Hospital, London, UK.; Department of Translational Health Sciences, University of Bristol, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Jayasinghe+K%22">Jayasinghe K</searchLink>; Department of Nephrology, Monash Health, Melbourne, Victoria, Australia.; Department of Clinical Genetics, Melbourne Health, Melbourne, Victoria, Australia.; Department of Medicine, Monash University, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Mallett+AJ%22">Mallett AJ</searchLink>; College of Medicine and Dentistry, James Cook University, Townsville, Queensland, Australia.; Department of Renal Medicine, Townsville University Hospital, Townsville, Queensland, Australia.; Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Ratliff+JC%22">Ratliff JC</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Sampson+MG%22">Sampson MG</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pediatric Nephrology, Boston Children's Hospital, Boston, MA, USA.; Pediatrics and Medicine, Harvard Medical School, Boston, MA, USA.; Kidney Disease Initiative and Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA, USA.; Division of Nephrology, Brigham and Women's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Savige+J%22">Savige J</searchLink>; Department of Medicine (Melbourne Health and Northern Health), University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Schlondorff+JS%22">Schlondorff JS</searchLink>; Division of Renal-Electrolyte and Hypertension, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Stark+Z%22">Stark Z</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Webb+RF%22">Webb RF</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Wilson+PC%22">Wilson PC</searchLink>; Department of Pathology and Laboratory Medicine, Division of Diagnostic Innovation, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Wongboonsin+J%22">Wongboonsin J</searchLink>; Division of Nephrology, Brigham and Women's Hospital, Boston, MA, USA.; Department of Internal Medicine, Renal Division, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.<br /><searchLink fieldCode="AU" term="%22Pollak+MR%22">Pollak MR</searchLink>; Kidney Disease Initiative and Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA, USA.; Division of Nephrology, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Medicine, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22McCarthy+HJ%22">McCarthy HJ</searchLink>; The Centre for Kidney Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Quinlan+C%22">Quinlan C</searchLink>; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Nephrology, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Kidney Regeneration, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Nephrology, Children's Health Ireland, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Lennon+R%22">Lennon R</searchLink>; Manchester Cell-Matrix Centre, Division of Cell-Matrix Biology and Regenerative Medicine, University of Manchester, Manchester, UK. Rachel.Lennon@manchester.ac.uk.; Department of Paediatric Nephrology, Royal Manchester Children's Hospital, Manchester, UK. Rachel.Lennon@manchester.ac.uk.
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