WT1 germline pathogenic variant
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-WT1-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | WT1 germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | DIS-WILMS |
| Sources | SRC-NCCN-PEDIATRIC-SARCOMA |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "WT1", "gene_hugo_id": "HGNC:12796", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
WT1 germline — drives WAGR (11p13 contiguous-gene deletion: Wilms, aniridia, genitourinary anomalies, range of intellectual disability), Denys-Drash syndrome (pseudohermaphroditism + diffuse mesangial sclerosis + Wilms), and Frasier syndrome. Pediatric Wilms tumor risk ~50% in Denys-Drash, ~30-50% in WAGR. Surveillance: renal US every 3 months until age 7 in known carriers. STUB pending two-Co-Lead signoff.
Used By
Actionability
BMA-WT1-GERMLINE-WILMS- WT1 germline pathogenic variants drive a spectrum of pediatric kidney predispositions: WA...