Patient has a confirmed Beckwith-Wiedemann syndrome (BWS) molecular diagnosis — pathogeni...

Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.

ID	`RF-BECKWITH-WIEDEMANN-CONFIRMED-CARRIER`
Type	Red flag
Status	reviewed 2026-05-19 \| pending_clinical_signoff
Diseases	`DIS-WILMS`
Sources	`SRC-AASLD-HCC-2023` `SRC-BRIOUDE-BECKWITH-WIEDEMANN-2018` `SRC-KALISH-BECKWITH-WIEDEMANN-2017` `SRC-NCCN-GENETIC-FAMILIAL-BREAST-OVARIAN-2025`

Red Flag Origin

Definition	Patient has a confirmed Beckwith-Wiedemann syndrome (BWS) molecular diagnosis — pathogenic alteration at the 11p15.5 imprinting locus (CDKN1C, H19, KCNQ1OT1, IGF2). BWS confers an estimated 5-10% lifetime embryonal tumor risk during infancy and early childhood (especially Wilms tumor with IC1/H19 hypermethylation subtype, hepatoblastoma across subtypes). The risk window is narrow — most tumors arise before age 8 — so intensive prevention-time surveillance is critical. Prevention-persona confirmed-carrier RedFlag (§20).
Clinical direction	investigate
Category	other

Trigger Logic

{
  "any_of": [
    {
      "finding": "germline_bws_confirmed",
      "value": true
    }
  ],
  "type": "lab_value"
}

Notes

Prevention-persona BWS confirmed-carrier RedFlag (pediatric cancer predisposition Wave M). Engine routes to PreventionPlan for Wilms tumor + hepatoblastoma surveillance: abdominal US q3mo from infancy through age 8, AFP monthly through age 3-4 then q3mo through age 4. STUB pending two-Clinical-Co-Lead signoff per CHARTER §6.1 dev-mode. Disease anchor DIS-WILMS used per Wave-M brief; hepatoblastoma cancer-spectrum noted in rationale of paired Indications.

Used By

Indications

IND-BECKWITH-WIEDEMANN-CARRIER-INTENSIFIED - IND-BECKWITH-WIEDEMANN-CARRIER-INTENSIFIED
IND-BECKWITH-WIEDEMANN-CARRIER-SURVEILLANCE - IND-BECKWITH-WIEDEMANN-CARRIER-SURVEILLANCE