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Article

Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets.

Leukemia - 1 Mar 2026

Tiong Ing Soo, Hunter Sally, Kankanige Yamuna, Mehta Nikita N, Chisholm Ryan A, Wu Simon, Li Jamilla, Casan Joshua, Chan Kah Lok, Godley Lucy A, Fox Lucy C, Blombery Piers

Abstract excerpt

Deleterious germline DDX41 variants are the leading cause of heritable predisposition to myelodysplastic neoplasia and acute myeloid leukemia (MDS/AML). Accurate classification of pathogenicity is crucial for managing patients and their families. The absence of specific guidelines, along with late-onset disease, incomplete penetrance, and founder variants, poses challenges in clinical and laboratory practice. We...

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Identifiers

PMID: 41703027
DOI: 10.1038/s41375-026-02886-6
PMCID: PMC12960222

Genes

DDX41

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets.PMID 41703027Read ↗

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