Evidence map›Paper›PMID 42168382›Full record

ReviewNature reviews. Nephrology2026

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

Alicia B Byrne, Anna S Li, Edmund Y M Chung, Enyonam Edoh, Hannah Dziadzio, Pamela Ajuyah, Elisabet Ars, Yasar Caliskan, Ahmet Burak Dirim, Mark D Elliott and 16 more

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Nephrology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

26 authors.

Alicia B Byrne *Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-8141-1818
Anna S Li *Manchester Cell-Matrix Centre, Division of Cell-Matrix Biology and Regenerative Medicine, University of Manchester, Manchester, UK.ORCID http://orcid.org/0000-0003-2707-3990
Edmund Y M Chung *The Centre for Kidney Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.ORCID http://orcid.org/0000-0002-6897-2231
Enyonam EdohProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Hannah DziadzioProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Pamela AjuyahProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Elisabet ArsMolecular Biology Laboratory, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), RICORS2040 renal, ERKNet Reference Centre, Barcelona, Spain.ORCID http://orcid.org/0000-0002-4118-4358
Yasar CaliskanDivision of Nephrology, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID http://orcid.org/0000-0003-3816-8047
Ahmet Burak DirimDepartment of Internal Medicine, Division of Nephrology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Mark D ElliottDepartment of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
Asheeta GuptaDepartment of Nephrology, Great Ormond Street Hospital, London, UK.
Kushani JayasingheDepartment of Nephrology, Monash Health, Melbourne, Victoria, Australia.
Andrew J MallettCollege of Medicine and Dentistry, James Cook University, Townsville, Queensland, Australia.ORCID http://orcid.org/0000-0002-8752-2551
Julie C RatliffProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Matthew G SampsonProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-9560-076X
Judy SavigeDepartment of Medicine (Melbourne Health and Northern Health), University of Melbourne, Melbourne, Victoria, Australia.
Johannes S SchlondorffDivision of Renal-Electrolyte and Hypertension, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Zornitza StarkVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.ORCID http://orcid.org/0000-0001-8640-1371
Ryan F WebbProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Parker C WilsonDepartment of Pathology and Laboratory Medicine, Division of Diagnostic Innovation, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0001-8647-9662
Janewit WongboonsinDivision of Nephrology, Brigham and Women's Hospital, Boston, MA, USA.
ClinGen Glomerulopathy Gene Curation Expert Panel
Martin R PollakKidney Disease Initiative and Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA, USA.
Hugh J McCarthyThe Centre for Kidney Research, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
Catherine QuinlanDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Rachel LennonManchester Cell-Matrix Centre, Division of Cell-Matrix Biology and Regenerative Medicine, University of Manchester, Manchester, UK. Rachel.Lennon@manchester.ac.uk.ORCID http://orcid.org/0000-0001-6400-0227

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Kidney DiseasesGenetic Predisposition to DiseaseGenetic TestingHumansKidney GlomerulusPhenotype

Identifiers

PMID42168382

What OpenQuestion holds

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Read underepoch 390

Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.