DDX41-related hematologic malignancy predisposition syndrome: genes and variants
DDX41-related hematologic malignancy predisposition syndrome is linked to 1 analyzed protein (DDX41). 3 DNA variants are known to cause it; 114 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to DDX41-related hematologic malignancy predisposition syndrome
DDX41: Probable ATP-dependent RNA helicase DDX41
It participates in RNA processing, ribosome biology, and innate nucleic-acid sensing in hematopoietic cells. Germline loss-of-function variants strongly predispose to myelodysplastic syndrome and acute myeloid leukemia, often after acquisition of a second somatic DDX41 variant.
3 disease-causing and 114 uncertain variants in DDX41 are linked to DDX41-related hematologic malignancy predisposition syndrome.
Known disease-causing variants in DDX41-related hematologic malignancy predisposition syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| DDX41 M1I | 1 | Disease-causing (★★) | |
| DDX41 Q208E | 208 | Q motif | Disease-causing (★) |
| DDX41 R339L | 339 | Helicase ATP-binding | Disease-causing (★) |
Diseases related to DDX41-related hematologic malignancy predisposition syndrome
- Acute myeloid leukemia, also linked to DDX41
- Myelodysplastic syndrome, also linked to DDX41
Frequently asked questions
Which genes are linked to DDX41-related hematologic malignancy predisposition syndrome?
In CATVariant, DDX41-related hematologic malignancy predisposition syndrome is linked to 1 analyzed protein: DDX41 (Probable ATP-dependent RNA helicase DDX41).
How many genetic variants are linked to DDX41-related hematologic malignancy predisposition syndrome?
133 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 114 are of uncertain significance or have conflicting reports.
Which uncertain variants in DDX41-related hematologic malignancy predisposition syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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