The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships
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.
Authors
- Pamela Ajuyah (ORCID: https://orcid.org/0000-0002-5529-1461)
- Amanda Buchanan
- Nicole Burns (ORCID: https://orcid.org/0000-0003-4270-4957)
- Julie P. Taylor (ORCID: https://orcid.org/0000-0003-1819-3640)
- Marie Balzotti
- Saumya Shekhar Jamuar (ORCID: https://orcid.org/0000-0003-2341-8349)
- Brooke C. Palus
- Stephanie DiTroia (ORCID: https://orcid.org/0000-0002-6847-6780)
- Amanda Clause (ORCID: https://orcid.org/0000-0002-2078-7280)
- Devon Lamb Thrush
- Ai Ling Koh (ORCID: https://orcid.org/0000-0002-4514-6869)
- Sarah Schmidt (ORCID: https://orcid.org/0000-0002-4200-9703)
- Brendan Burns
- B.M. Bowen (ORCID: https://orcid.org/0000-0002-3148-5667)
- Marina T. DiStefano (ORCID: https://orcid.org/0000-0002-8218-5111)
- Hannah McCurry
- Jiin Ying Lim (ORCID: https://orcid.org/0000-0003-3253-2768)
- Eleanor C Broeren
- Sabrina Toro (ORCID: https://orcid.org/0000-0002-4142-7153)
- Alicia B. Byrne (ORCID: https://orcid.org/0000-0002-8141-1818)
- Jonathan S. Berg (ORCID: https://orcid.org/0000-0003-2360-2664)
- Rhonda N.T. Lassiter
- Ada Hamosh (ORCID: https://orcid.org/0000-0002-1780-5230)
- Revathi Rajkumar
- Stephen A. Murray (ORCID: https://orcid.org/0000-0002-0594-1702)
- Maya Chopra (ORCID: https://orcid.org/0000-0002-2574-3375)
- Nicole Vasilevsky (ORCID: https://orcid.org/0000-0001-5208-3432)
- Thuong Ha (ORCID: https://orcid.org/0000-0002-4408-2613)
- Bruno Della Ripa Rodrigues Assis (ORCID: https://orcid.org/0000-0002-2133-1912)
- Alison J. Coffey (ORCID: https://orcid.org/0000-0002-1338-8513)
- Katie Golden‐Grant
- Gabrielle Lemire (ORCID: https://orcid.org/0000-0002-2834-6973)
- Anne Girod
- Samin A. Sajan (ORCID: https://orcid.org/0000-0002-9689-2597)
- Sylvia Kam (ORCID: https://orcid.org/0000-0001-7704-1917)
- Shahida Moosa (ORCID: https://orcid.org/0000-0002-4463-3067)
- Alka Malhotra (ORCID: https://orcid.org/0000-0003-1174-688X)
- Becky Milewski
- Emma Owens
- Zinayida Schlachetzki
- Madeline Y. Hughes
- Elizabeth E. Palmer (ORCID: https://orcid.org/0000-0003-1844-215X)
- S. E. A. Leigh (ORCID: https://orcid.org/0000-0003-3368-7059)
- Courtney Thaxton (ORCID: https://orcid.org/0000-0002-6733-369X)
- Samuel P. Strom (ORCID: https://orcid.org/0000-0003-3254-7564)
- Himanshu Goel (ORCID: https://orcid.org/0000-0001-6448-6618)
- Zornitza Stark (ORCID: https://orcid.org/0000-0001-8640-1371)
- Jessica X. Chong (ORCID: https://orcid.org/0000-0002-1616-2448)
- Krista Bluske
- Anjana Chandrasekhar (ORCID: https://orcid.org/0009-0001-5113-5576)
- Marwa Elnagheeb
- Kezang Tshering (ORCID: https://orcid.org/0000-0001-9619-3625)
- Bess Wayburn
- Anne O’Donnell‐Luria (ORCID: https://orcid.org/0000-0001-6418-9592)
- Aditi Chawla
- Julie Ratliff
- Ryan Webb (ORCID: https://orcid.org/0009-0003-2127-3550)
- Akanchha Kesari
- Matthew P. Brown
- Jennifer M. Huang
- F. Lucy Raymond
- Mayher Patel
- Vanessa Gitau
Institutions
- Broad Institute (US)
- South Australia Pathology (AU)
- University of North Carolina at Chapel Hill (US)
- Boston Children's Hospital (US)
- Tufts Medical Center (US)
- University of Wisconsin System (US)
- New South Wales Department of Health (AU)
- Children’s Institute (US)
- University of Wisconsin–Madison (US)
- Myriad (Germany) (DE)
- Johns Hopkins University (US)
- SingHealth (SG)
- The University of Melbourne (AU)
- Palo Alto University (US)
- Illumina (United States) (US)
- Universidade de São Paulo (BR)
- University of Washington (US)
- Washington University in St. Louis (US)
- University of Cambridge (GB)
- Stellenbosch University (ZA)
- Children's Hospital of Eastern Ontario (CA)
- Johns Hopkins Medicine (US)
- Critical Path Institute (US)
- Tygerberg Hospital (ZA)
- Children's Hospital Colorado (US)
- SingHealth Duke-NUS Academic Medical Centre (SG)
- Hunter Genetics (AU)
- Exact Sciences (United States) (US)
- Victorian Clinical Genetics Services (AU)
- KK Women's and Children's Hospital (SG)
- Illumina (United Kingdom) (GB)
- Jackson Laboratory (US)
- ID Genomics (United States) (US)
- Duke-NUS Medical School (SG)
- Genomics Medicine (Ireland) (IE)
- Brotman Baty Institute (US)
- Centre for Cancer Biology (AU)
- Genomics England (GB)
- Murdoch Children's Research Institute (AU)
- Ambry Genetics (United States) (US)
- Melbourne Genomics Health Alliance (AU)
- Myriad Genetics (US)
- The University of Adelaide (AU)
- Neuroscience Research Australia (AU)
- Southern States University (US)
- University of Colorado Denver (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103429
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- South African Medical Research Council
- National Institutes of Health
- Fonds de Recherche du Québec - Santé
- National Medical Research Council
- National Human Genome Research Institute
- Eunice Kennedy Shriver National Institute of Child Health and Human Development