The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2.

doi:10.1016/j.gim.2025.101613

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The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2026

Jacovas Vanessa C, Zelnick Michelle, McNulty Shannon, Ross Justyne E, Khurana Namrata, Pan Xueyang, Nieto Alejandro, Martin Shiloh, McLean Benjamin, Elnagheeb Marwa A, Cowan Morton J, Puck Jennifer M, Hershfield Mike S, Verbsky James, Walter Jolan, Allenspach Eric J, Chan Alice Y, van Oers Nicolai S C, Ghosh Rajarshi, Piazza Megan, Yuan Bo, Notarangelo Luigi D, Johnson Britt A, Chinn Ivan K

Abstract excerpt

PURPOSE: This collaborative study, led by the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel (ClinGen SCID-VCEP), implemented and adapted the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for interpreting germline variants in genes with established relationships to SCID. The effort focused on the 7 most...

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Identifiers

PMID: 41104538
DOI: 10.1016/j.gim.2025.101613
PMCID: PMC13175239

Genes

ADA
DCLRE1C
IL2RG
IL7R
JAK3
RAG1
RAG2

Provenance

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