Wilms tumor: genes and variants
Wilms tumor is linked to 2 analyzed proteins (WT1 and BRCA2). 6 DNA variants are known to cause it; 4 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Wilms tumor 1
Genes linked to Wilms tumor
WT1: Wilms tumor protein
It controls transcriptional programs required for kidney and gonadal development and also restrains or promotes cell growth in a context-dependent manner. Germline pathogenic variants cause Wilms-tumor predisposition and Denys-Drash or Frasier syndromes, while somatic alterations occur in some leukemias.
6 disease-causing and 4 uncertain variants in WT1 are linked to Wilms tumor.
BRCA2: Breast cancer type 2 susceptibility protein
It loads RAD51 onto damaged DNA to enable homologous recombination and also protects stressed replication forks from degradation. Germline loss-of-function variants strongly predispose to breast, ovarian, prostate, pancreatic, and other cancers.
0 disease-causing and 0 uncertain variants in BRCA2 are linked to Wilms tumor.
Where Wilms tumor variants cluster
- WT1 C2H2-type 3 (positions 383–405): 4 of 6 disease-causing changes, 13.0× more than its size predicts.
Known disease-causing variants in Wilms tumor
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| WT1 R366C | 366 | C2H2-type 2 | Disease-causing (★★) |
| WT1 R366H | 366 | C2H2-type 2 | Disease-causing (★★) |
| WT1 D396N | 396 | C2H2-type 3 | Disease-causing (★★) |
| WT1 D396G | 396 | C2H2-type 3 | Disease-causing (★) |
| WT1 C385R | 385 | C2H2-type 3 | Disease-causing (★) |
| WT1 H405R | 405 | C2H2-type 3 | Disease-causing (★) |
Diseases related to Wilms tumor
- Ovarian cancer, also linked to BRCA2
- Nephrotic syndrome, also linked to WT1
- Acute myeloid leukemia, also linked to WT1
- Fanconi anemia, also linked to BRCA2
- Breast-ovarian cancer, familial, susceptibility to, 1, also linked to BRCA2
- Glioma susceptibility 1, also linked to BRCA2
- Hereditary breast ovarian cancer syndrome, also linked to BRCA2
- Ovarian neoplasm, also linked to BRCA2
- Frasier syndrome, also linked to WT1
- Prostate cancer, also linked to BRCA2
- 11p partial monosomy syndrome, also linked to WT1
- Kidney disorder, also linked to WT1
Frequently asked questions
Which genes are linked to Wilms tumor?
In CATVariant, Wilms tumor is linked to 2 analyzed proteins: WT1 (Wilms tumor protein) and BRCA2 (Breast cancer type 2 susceptibility protein).
How many genetic variants are linked to Wilms tumor?
14 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Wilms tumor 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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