Evidence map›Paper›PMID 39606380›Full record

ArticlemedRxiv : the preprint server for health sciences2024

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

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

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. 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

5 · Who and what money

Authors and funding

63 authors.

Eleanor BroerenProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
Vanessa GitauProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
Alicia ByrneProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
Pamela AjuyahProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
Marie BalzottiMyriad Women's Health, Myriad Genetics, South San Francisco, CA, United States.
Jonathan BergGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.ORCID 0000-0003-2360-2664
Krista BluskeIllumina Laboratory Services, Illumina Inc., San Diego, CA, United States.
B Monica BowenBiomedical Data Science, Stanford University, Palo Alto, CA, United States.
Matthew P BrownIllumina Laboratory Services, Illumina Inc., San Diego, CA, United States.
Amanda BuchananMaternal-Fetal Medicine, Tufts Medical Center, Boston, MA, United States.
Brendan BurnsIllumina Laboratory Services, Illumina Inc., San Diego, CA, United States.
Nicole J BurnsIllumina Laboratory Services, Illumina Inc., San Diego, CA, United States.
Anjana ChandrasekharIllumina Laboratory Services, Illumina Inc., San Diego, CA, United States.
Aditi ChawlaIllumina Laboratory Services, Illumina Inc., San Diego, CA, United States.
Jessica ChongPediatrics, University of Washington, Seattle, WA, United States.ORCID 0000-0002-1616-2448
Maya ChopraRosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, United States.
Amanda ClauseIllumina Laboratory Services, Illumina Inc., San Diego, CA, United States.
Marina DiStefanoProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
Stephanie DiTroiaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
Marwa ElnagheebGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Amanda GirodProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
Himanshu GoelHunter Genetics, Waratah, NSW, Australia.
Katie Golden-GrantIllumina Laboratory Services, Illumina Inc., San Diego, CA, United States.
Thuong HaGenetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Ada HamoshDepartment of Genetic Medicine, Johns Hopkins University School of Medicine Baltimore, MD, United States.
Jennifer HuangAmbry Genetics, Aliso Viejo, CA, United States.
Madeline HughesProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
Saumya 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, United States.
Ai Ling KohGenetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.
Rhonda LassiterAmbry Genetics, Aliso Viejo, CA, United States.
Sarah LeighBiocuration, Genomics England Ltd, London, United Kingdom.
Gabrielle LemireProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
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, United States.
Hannah McCurryProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
Becky MilewskiIllumina Laboratory Services, Illumina Inc., San Diego, CA, United States.
Shahida MoosaDivision of Molecular Biology and Human Genetics Stellenbosch University, Cape Town, WC, South Africa.ORCID 0000-0002-4463-3067
Stephen MurrayThe Jackson Laboratory, Bar Harbor, ME, United States.
Emma OwensGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Emma PalmerSchool of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Randwick, NSW Australia.
Brooke PalusGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Mayher PatelProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
Revathi RajkumarIllumina Laboratory Services, Illumina Inc., San Diego, CA, United States.
Julie RatliffProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
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.ORCID 0000-0002-2133-1912
Samin SajanCytogenetics, Wisconsin State Laboratory of Hygiene, University of Wisconsin-Madison, Madison, WI, United States.
Zinayida SchlachetzkiIllumina Laboratory Services, Illumina Inc., San Diego, CA, United States.
Sarah SchmidtIllumina Laboratory Services, Illumina Inc., San Diego, CA, United States.
Zornitza StarkAustralian Genomics, Melbourne, Victoria, Australia.
Samuel StromIllumina Laboratory Services, Illumina Inc., San Diego, CA, United States.
Julie TaylorIllumina Laboratory Services, Illumina Inc., San Diego, CA, United States.
Courtney ThaxtonGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Devon ThrushAmbry Genetics, Aliso Viejo, CA, United States.
Sabrina ToroGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Kezang TsheringProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
Nicole VasilevskyData Collaboration Center, Critical Path Institute, Tucson, AZ, United States.
Bess WayburnAmbry Genetics, Aliso Viejo, CA, United States.
Ryan WebbProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.
Anne O'Donnell-LuriaDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, United States.ORCID 0000-0001-6418-9592
Alison J CoffeyTranslational Research, Illumina Inc., Cambridge, Cambridgeshire, 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 (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (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. 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. 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 where further data are needed. All diseases involved two or more organ systems, while the majority (88/111 GDRs, 79.2%) had five 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.

Identifiers

PMID39606380
PMCPMC11601709

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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.