The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2
The SCID-specific variant curation guidelines developed by the SCID-VCEP will enhance the precision of SCID genetic diagnosis and provide a robust framework for interpreting variants in SCID-related genes, contributing to appropriate treatment of SCID.
Authors
- Justyne Ross (ORCID: https://orcid.org/0000-0002-7437-8060)
- Namrata Khurana (ORCID: https://orcid.org/0000-0002-8673-1917)
- Britt Johnson (ORCID: https://orcid.org/0000-0003-1883-5201)
- Shiloh Martin
- Iván K. Chinn (ORCID: https://orcid.org/0000-0001-5684-5457)
- Alejandro Nieto-Patlán (ORCID: https://orcid.org/0000-0002-8668-6853)
- Jennifer M. Puck (ORCID: https://orcid.org/0000-0001-6623-6276)
- Xueyang Pan (ORCID: https://orcid.org/0000-0003-4453-4971)
- James Verbsky (ORCID: https://orcid.org/0000-0001-6682-1002)
- Luigi Daniele Notarangelo (ORCID: https://orcid.org/0000-0002-8335-0262)
- Rajarshi Ghosh (ORCID: https://orcid.org/0000-0001-7368-8940)
- Jolán E. Walter (ORCID: https://orcid.org/0000-0002-6192-0703)
- Eric J. Allenspach (ORCID: https://orcid.org/0000-0001-7346-5835)
- M Piazza
- Morton J. Cowan (ORCID: https://orcid.org/0000-0002-1088-8045)
- Vanessa Cristina Jacovas (ORCID: https://orcid.org/0000-0002-3611-4494)
- Nicolai S. C. van Oers (ORCID: https://orcid.org/0000-0002-6545-8405)
- Benjamin McLean (ORCID: https://orcid.org/0000-0003-1713-1755)
- Shannon McNulty (ORCID: https://orcid.org/0000-0002-0566-4629)
- Alice Chan (ORCID: https://orcid.org/0000-0003-1466-7044)
- Bo Yuan (ORCID: https://orcid.org/0000-0001-7278-5116)
- Marwa Elnagheeb
- Michel S Hershfield (ORCID: https://orcid.org/0000-0003-3589-8554)
- Michelle Zelnick
Institutions
- Human Genome Sciences (United States) (US)
- University of North Carolina at Chapel Hill (US)
- Children's Hospital of Wisconsin (US)
- Seattle Children's Hospital (US)
- National Institutes of Health (US)
- Johns Hopkins University (US)
- Duke University (US)
- Baylor College of Medicine (US)
- University of Washington (US)
- Southwestern Medical Center (US)
- Johns Hopkins All Children's Hospital (US)
- Exact Sciences (United States) (US)
- National Institute of Allergy and Infectious Diseases (US)
- UCSF Benioff Children's Hospital (US)
- Texas Children's Hospital (US)
- Invitae (United States) (US)
- Southwestern Medical Center (US)
- The University of Texas Southwestern Medical Center (US)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2025-10-15
- DOI
- https://doi.org/10.1016/j.gim.2025.101613
- Citations
- 1
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.80
Funders
- California Institute of Regenerative Medicine
- National Institutes of Health
- National Institute of Child Health and Human Development