The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships
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 framew...
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2025-01-01
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| author | 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 Brendan T. Burns Nicole J. Burns Anjana Chandrasekhar Aditi Chawla Jessica X. Chong Maya Chopra Amanda R. Clause Marina T. DiStefano Stephanie DiTroia Marwa A. Elnagheeb Amanda N. Girod Himanshu Goel Katie L. Golden-Grant Thuong Ha Ada Hamosh Jennifer M. Huang Madeline Y. Hughes Saumya S. Jamuar Sylvia Kam Akanchha Kesari Ai Ling Koh Rhonda N.T. Lassiter Sarah E. Leigh Gabrielle Lemire Jiin Ying Lim Alka Malhotra Hannah R. McCurry Becky Milewski Shahida Moosa Stephen A. Murray Emma H. Owens Elizabeth E. Palmer Brooke C. Palus Mayher J. Patel Revathi Rajkumar Julie C. Ratliff F. Lucy Raymond Bruno Della Ripa Rodrigues Assis Samin A. Sajan Zinayida Schlachetzki Sarah A. Schmidt Zornitza Stark Samuel P. Strom Julie P. Taylor Courtney Thaxton Devon L. Thrush Sabrina Toro Kezang C. Tshering Nicole A. Vasilevsky Bess Wayburn Ryan F. Webb Anne O’Donnell-Luria Alison J. Coffey |
| author_facet | 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 Brendan T. Burns Nicole J. Burns Anjana Chandrasekhar Aditi Chawla Jessica X. Chong Maya Chopra Amanda R. Clause Marina T. DiStefano Stephanie DiTroia Marwa A. Elnagheeb Amanda N. Girod Himanshu Goel Katie L. Golden-Grant Thuong Ha Ada Hamosh Jennifer M. Huang Madeline Y. Hughes Saumya S. Jamuar Sylvia Kam Akanchha Kesari Ai Ling Koh Rhonda N.T. Lassiter Sarah E. Leigh Gabrielle Lemire Jiin Ying Lim Alka Malhotra Hannah R. McCurry Becky Milewski Shahida Moosa Stephen A. Murray Emma H. Owens Elizabeth E. Palmer Brooke C. Palus Mayher J. Patel Revathi Rajkumar Julie C. Ratliff F. Lucy Raymond Bruno Della Ripa Rodrigues Assis Samin A. Sajan Zinayida Schlachetzki Sarah A. Schmidt Zornitza Stark Samuel P. Strom Julie P. Taylor Courtney Thaxton Devon L. Thrush Sabrina Toro Kezang C. Tshering Nicole A. Vasilevsky Bess Wayburn Ryan F. Webb Anne O’Donnell-Luria Alison J. Coffey |
| author_sort | Eleanor C. Broeren |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-a22d7e3af58d47e3b098e747d8234be9 |
| institution | OA Journals |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-a22d7e3af58d47e3b098e747d8234be92025-08-20T02:29:43ZengElsevierGenetics in Medicine Open2949-77442025-01-01310342910.1016/j.gimo.2025.103429The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationshipsEleanor C. Broeren0Vanessa N. Gitau1Alicia B. Byrne2Pamela Ajuyah3Marie B. Balzotti4Jonathan S. Berg5Krista Bluske6B. Monica Bowen7Matthew P. Brown8Amanda Buchanan9Brendan T. Burns10Nicole J. Burns11Anjana Chandrasekhar12Aditi Chawla13Jessica X. Chong14Maya Chopra15Amanda R. Clause16Marina T. DiStefano17Stephanie DiTroia18Marwa A. Elnagheeb19Amanda N. Girod20Himanshu Goel21Katie L. Golden-Grant22Thuong Ha23Ada Hamosh24Jennifer M. Huang25Madeline Y. Hughes26Saumya S. Jamuar27Sylvia Kam28Akanchha Kesari29Ai Ling Koh30Rhonda N.T. Lassiter31Sarah E. Leigh32Gabrielle Lemire33Jiin Ying Lim34Alka Malhotra35Hannah R. McCurry36Becky Milewski37Shahida Moosa38Stephen A. Murray39Emma H. Owens40Elizabeth E. Palmer41Brooke C. Palus42Mayher J. Patel43Revathi Rajkumar44Julie C. Ratliff45F. Lucy Raymond46Bruno Della Ripa Rodrigues Assis47Samin A. Sajan48Zinayida Schlachetzki49Sarah A. Schmidt50Zornitza Stark51Samuel P. Strom52Julie P. Taylor53Courtney Thaxton54Devon L. Thrush55Sabrina Toro56Kezang C. Tshering57Nicole A. Vasilevsky58Bess Wayburn59Ryan F. Webb60Anne O’Donnell-Luria61Alison J. Coffey62Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MAProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MAProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MAProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MAMyriad Women’s Health, Myriad Genetics, South San Francisco, CAGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NCIllumina Laboratory Services, Illumina Inc, San Diego, CA; Ambry Genetics, Aliso Viejo, CABiomedical Data Science, Stanford University, Palo Alto, CAIllumina Laboratory Services, Illumina Inc, San Diego, CAIllumina Laboratory Services, Illumina Inc, San Diego, CA; Maternal-Fetal Medicine, Tufts Medical Center, Boston, MAIllumina Laboratory Services, Illumina Inc, San Diego, CAIllumina Laboratory Services, Illumina Inc, San Diego, CA; Department of Pathology and Laboratory Medicine, Children’s Hospital Colorado, Aurora, COIllumina Laboratory Services, Illumina Inc, San Diego, CA; Department of Pathology and Laboratory Medicine, Children’s Hospital Colorado, Aurora, COIllumina Laboratory Services, Illumina Inc, San Diego, CAPediatrics, University of Washington, Seattle, WA; Brotman-Baty Institute for Precision Medicine, Seattle, WARosamund Stone Zander Translational Neuroscience Center, Boston Children’s Hospital, Boston, MAIllumina Laboratory Services, Illumina Inc, San Diego, CA; Neurology, Washington University in St. Louis, St. Louis, MOProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MAProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MAGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NCProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MAHunter Genetics, Waratah, NSW, AustraliaIllumina Laboratory Services, Illumina Inc, San Diego, CA; Rady Children’s Institute for Genomic Medicine, San Diego, CAGenetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia; Alliance between SA Pathology and UniSA, Centre for Cancer Biology, Adelaide, SA, Australia; Adelaide Medical School, University of Adelaide, Adelaide, SA, AustraliaDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MDAmbry Genetics, Aliso Viejo, CAProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MAGenetics Service, Department of Paediatric Medicine, KK Women’s and Children’s Hospital, Singapore; SingHealth Duke-NUS Genomic Medicine Centre, Singapore; SingHealth Duke-NUS Institute of Precision Medicine, SingaporeGenetics Service, Department of Paediatric Medicine, KK Women’s and Children’s Hospital, Singapore; SingHealth Duke-NUS Genomic Medicine Centre, SingaporeIllumina Laboratory Services, Illumina Inc, San Diego, CAGenetics Service, Department of Paediatric Medicine, KK Women’s and Children’s Hospital, Singapore; SingHealth Duke-NUS Genomic Medicine Centre, SingaporeAmbry Genetics, Aliso Viejo, CABiocuration, Genomics England Ltd, London, United KingdomProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA; Children’s Hospital of Eastern Ontario, Ottawa, ON, CanadaGenetics Service, Department of Paediatric Medicine, KK Women’s and Children’s Hospital, Singapore; SingHealth Duke-NUS Genomic Medicine Centre, SingaporeIllumina Laboratory Services, Illumina Inc, San Diego, CAProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MAIllumina Laboratory Services, Illumina Inc, San Diego, CA; Hereditary Cancer Genetic Counselor, PreventionGenetics part of Exact Sciences, Marshfield, WIDivision of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, WC, South Africa; Medical Genetics, Tygerberg Hospital, Cape Town, WC, South AfricaThe Jackson Laboratory, Bar Harbor, MEGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NCSchool of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Randwick, NSW, AustraliaGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NCProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MAIllumina Laboratory Services, Illumina Inc, San Diego, CAProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MADepartment of Medical Genetics, University of Cambridge, Cambridge, United KingdomNeurogenetics, University of São Paulo, São Paulo, SP, BrazilCytogenetics, Wisconsin State Laboratory of Hygiene, University of Wisconsin-Madison, Madison, WI; Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WIIllumina Laboratory Services, Illumina Inc, San Diego, CA; Alzheimer’s Therapeutic Research Institute (ATRI), University of Southern California, San Diego, CAIllumina Laboratory Services, Illumina Inc, San Diego, CA; Clinical Genomics Research and Development, Natera, Inc, Austin, TXAustralian Genomics, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, AustraliaIllumina Laboratory Services, Illumina Inc, San Diego, CA; Clinical Services, Fabric Genomics, Oakland, CAIllumina Laboratory Services, Illumina Inc, San Diego, CAGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NCAmbry Genetics, Aliso Viejo, CAGenetics, The University of North Carolina at Chapel Hill, Chapel Hill, NCProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MAData Collaboration Center, Critical Path Institute, Tucson, AZAmbry Genetics, Aliso Viejo, CAProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MADivision of Genetics and Genomics, Boston Children’s Hospital, Boston, MA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Anne O’Donnell-Luria, Boston Children’s Hospital, 300 Longwood Avenue, CLS15023 Boston, MA 02115.Translational Research, Illumina Inc, Cambridge, United Kingdom; Correspondence and requests for materials should be addressed to Alison J. Coffey, Illumina Centre, 19 Granta Park, Great Abington, Cambridge, Cambridgeshire CB21 6DF, United Kingdom.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.http://www.sciencedirect.com/science/article/pii/S2949774425014682ClinGenGene curationGene-disease relationshipRare diseaseSyndromic disorders |
| spellingShingle | 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 Brendan T. Burns Nicole J. Burns Anjana Chandrasekhar Aditi Chawla Jessica X. Chong Maya Chopra Amanda R. Clause Marina T. DiStefano Stephanie DiTroia Marwa A. Elnagheeb Amanda N. Girod Himanshu Goel Katie L. Golden-Grant Thuong Ha Ada Hamosh Jennifer M. Huang Madeline Y. Hughes Saumya S. Jamuar Sylvia Kam Akanchha Kesari Ai Ling Koh Rhonda N.T. Lassiter Sarah E. Leigh Gabrielle Lemire Jiin Ying Lim Alka Malhotra Hannah R. McCurry Becky Milewski Shahida Moosa Stephen A. Murray Emma H. Owens Elizabeth E. Palmer Brooke C. Palus Mayher J. Patel Revathi Rajkumar Julie C. Ratliff F. Lucy Raymond Bruno Della Ripa Rodrigues Assis Samin A. Sajan Zinayida Schlachetzki Sarah A. Schmidt Zornitza Stark Samuel P. Strom Julie P. Taylor Courtney Thaxton Devon L. Thrush Sabrina Toro Kezang C. Tshering Nicole A. Vasilevsky Bess Wayburn Ryan F. Webb Anne O’Donnell-Luria Alison J. Coffey The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships Genetics in Medicine Open ClinGen Gene curation Gene-disease relationship Rare disease Syndromic disorders |
| title | The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships |
| title_full | The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships |
| title_fullStr | The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships |
| title_full_unstemmed | The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships |
| title_short | The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships |
| title_sort | clingen syndromic disorders gene curation expert panel assessing the clinical validity of 111 gene disease relationships |
| topic | ClinGen Gene curation Gene-disease relationship Rare disease Syndromic disorders |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425014682 |
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clingensyndromicdisordersgenecurationexpertpanelassessingtheclinicalvalidityof111genediseaserelationships AT courtneythaxton clingensyndromicdisordersgenecurationexpertpanelassessingtheclinicalvalidityof111genediseaserelationships AT devonlthrush clingensyndromicdisordersgenecurationexpertpanelassessingtheclinicalvalidityof111genediseaserelationships AT sabrinatoro clingensyndromicdisordersgenecurationexpertpanelassessingtheclinicalvalidityof111genediseaserelationships AT kezangctshering clingensyndromicdisordersgenecurationexpertpanelassessingtheclinicalvalidityof111genediseaserelationships AT nicoleavasilevsky clingensyndromicdisordersgenecurationexpertpanelassessingtheclinicalvalidityof111genediseaserelationships AT besswayburn clingensyndromicdisordersgenecurationexpertpanelassessingtheclinicalvalidityof111genediseaserelationships AT ryanfwebb clingensyndromicdisordersgenecurationexpertpanelassessingtheclinicalvalidityof111genediseaserelationships AT anneodonnellluria clingensyndromicdisordersgenecurationexpertpanelassessingtheclinicalvalidityof111genediseaserelationships AT alisonjcoffey clingensyndromicdisordersgenecurationexpertpanelassessingtheclinicalvalidityof111genediseaserelationships |