Evidence map›Paper›PMID 40496713›Full record

ArticleGenetics in medicine open2025

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.

Eleanor C Broeren, Vanessa N Gitau, Alicia B Byrne, Pamela Ajuyah, Marie B Balzotti, Jonathan S Berg, Krista Bluske, B Monica Bowen, Matthew P Brown, Amanda Buchanan and 53 more

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Article in Genetics in medicine open, 2025. 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

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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

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3 · Its place in the literature

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0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

63 authors.

Eleanor C BroerenProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Vanessa N GitauProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Alicia B ByrneProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Pamela AjuyahProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Marie B BalzottiMyriad Women's Health, Myriad Genetics, South San Francisco, CA.
Jonathan S BergGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC.
Krista BluskeIllumina Laboratory Services, Illumina Inc, San Diego, CA.
B Monica BowenBiomedical Data Science, Stanford University, Palo Alto, CA.
Matthew P BrownIllumina Laboratory Services, Illumina Inc, San Diego, CA.
Amanda BuchananIllumina Laboratory Services, Illumina Inc, San Diego, CA.
Brendan T BurnsIllumina Laboratory Services, Illumina Inc, San Diego, CA.
Nicole J BurnsIllumina Laboratory Services, Illumina Inc, San Diego, CA.
Anjana ChandrasekharIllumina Laboratory Services, Illumina Inc, San Diego, CA.
Aditi ChawlaIllumina Laboratory Services, Illumina Inc, San Diego, CA.
Jessica X ChongPediatrics, University of Washington, Seattle, WA.
Maya ChopraRosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA.
Amanda R ClauseIllumina Laboratory Services, Illumina Inc, San Diego, CA.
Marina T DiStefanoProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Stephanie DiTroiaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Marwa A ElnagheebGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC.
Amanda N GirodProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Himanshu GoelHunter Genetics, Waratah, NSW, Australia.
Katie L Golden-GrantIllumina Laboratory Services, Illumina Inc, San Diego, CA.
Thuong HaGenetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Ada HamoshDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.
Jennifer M HuangAmbry Genetics, Aliso Viejo, CA.
Madeline Y HughesProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Saumya S JamuarGenetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.
Sylvia KamGenetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.
Akanchha KesariIllumina Laboratory Services, Illumina Inc, San Diego, CA.
Ai Ling KohGenetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.
Rhonda N T LassiterAmbry Genetics, Aliso Viejo, CA.
Sarah E LeighBiocuration, Genomics England Ltd, London, United Kingdom.
Gabrielle LemireProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Jiin Ying LimGenetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.
Alka MalhotraIllumina Laboratory Services, Illumina Inc, San Diego, CA.
Hannah R McCurryProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Becky MilewskiIllumina Laboratory Services, Illumina Inc, San Diego, CA.
Shahida MoosaDivision of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, WC, South Africa.
Stephen A MurrayThe Jackson Laboratory, Bar Harbor, ME.
Emma H OwensGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC.
Elizabeth E PalmerSchool of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Randwick, NSW, Australia.
Brooke C PalusGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC.
Mayher J PatelProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Revathi RajkumarIllumina Laboratory Services, Illumina Inc, San Diego, CA.
Julie C RatliffProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
F Lucy RaymondDepartment of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.
Bruno Della Ripa Rodrigues AssisNeurogenetics, University of São Paulo, São Paulo, SP, Brazil.
Samin A SajanCytogenetics, Wisconsin State Laboratory of Hygiene, University of Wisconsin-Madison, Madison, WI.
Zinayida SchlachetzkiIllumina Laboratory Services, Illumina Inc, San Diego, CA.
Sarah A SchmidtIllumina Laboratory Services, Illumina Inc, San Diego, CA.
Zornitza StarkAustralian Genomics, Melbourne, VIC, Australia.
Samuel P StromIllumina Laboratory Services, Illumina Inc, San Diego, CA.
Julie P TaylorIllumina Laboratory Services, Illumina Inc, San Diego, CA.
Courtney ThaxtonGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC.
Devon L ThrushAmbry Genetics, Aliso Viejo, CA.
Sabrina ToroGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC.
Kezang C TsheringProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Nicole A VasilevskyData Collaboration Center, Critical Path Institute, Tucson, AZ.
Bess WayburnAmbry Genetics, Aliso Viejo, CA.
Ryan F WebbProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
Anne O'Donnell-LuriaDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA.
Alison J CoffeyTranslational Research, Illumina Inc, Cambridge, United Kingdom.

Funding

Baylor College of Medicine/Stanford University Clinical Genome Resource (CLINGEN)U24HG009649 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI TERI Ellen KLEIN, Aleksandar Milosavljevic · 2021 to 2026
$31.5M
The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scaleU24HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI JONATHAN S BERG, Jessica Ezzell Hunter · 2021 to 2026
$30.0M
ClinGen AI Data Delivery SupplementU24HG006834 · NHGRI · BROAD INSTITUTE, INC. · PI Marina DiStefano, CHRISTA LESE MARTIN · 2021 to 2026
$26.7M
The Monarch Initiative: Linking Diseases to Model Organism ResourcesR24OD011883 · OD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAENDEL, MELISSA A, MUNGALL, CHRISTOPHER J · 2012 to 2024
$16.0M
University of Washington Mendelian Genomics Research Center (UW-MGRC)U01HG011744 · NHGRI · UNIVERSITY OF WASHINGTON · PI MICHAEL Joseph BAMSHAD, Evan Eichler · 2021 to 2026
$15.8M
Improvements to the LinkML framework to support the Phenomics First open science resourceRM1HG010860 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAENDEL, MELISSA A, MUNGALL, CHRISTOPHER J · 2020 to 2024
$10.3M
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
A next-generation morbid map of the human genomeR35HG011297 · NHGRI · UNIVERSITY OF WASHINGTON · PI CHONG, JESSICA XIAO-LING · 2020 to 2024
$2.2M
Gene Curation Expert Panel for Syndromic DisordersU24HD104591 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Anne O'Donnell-Luria · 2022 to 2026
$1.5M
NHGRI NIH HHS R35 HG011297NHGRI NIH HHS RM1 HG010860NHGRI NIH HHS U01 HG011744NHGRI NIH HHS U24 HG006834NHGRI NIH HHS U24 HG009649NHGRI NIH HHS U24 HG009650NICHD NIH HHS P50 HD105351NICHD NIH HHS U24 HD104591NIH HHS R24 OD011883
6 · The paper itself

Abstract

Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders Gene Curation Expert Panel (SD-GCEP) was formed to address an unmet need. Methods: The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. A total of 111 gene-disease relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated. Results: From April 2020 through March 2024, 38 precurations were performed on genes with multiple disease relationships and were reviewed to determine if the disorders were part of a spectrum or distinct entities. A total of 14 genes were lumped into a single disease entity, and 24 were split into separate entities, of which 11 were curated by the SD-GCEP. A full review of 111 GDRs for 100 genes followed, with 78 classified as Definitive, 9 as Strong, 15 as Moderate, and 9 as Limited, highlighting cases in which further data are needed. All diseases involved 2 or more organ systems, whereas the majority (88/111 GDRs, 79.2%) had 5 or more organ systems affected. Conclusion: The SD-GCEP addresses a critical gap in gene curation efforts, enabling inclusion of genes for syndromic disorders in clinical testing and contributing to keeping pace with the rapid discovery of new genetic syndromes.

Indexed as

ClinGenGene curationGene-disease relationshipRare diseaseSyndromic disorders

Identifiers

PMID40496713
PMCPMC12151239

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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.