BLM germline biallelic pathogenic variants
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-BLM-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | BLM germline pathogenic variant (biallelic)BLM germline біалельні патогенні варіанти |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | DIS-CRC |
| Sources | SRC-NCCN-PEDIATRIC-SARCOMA |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "BLM", "gene_hugo_id": "HGNC:1058", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
BLM germline biallelic — drives Bloom syndrome (autosomal recessive). RecQ helicase deficiency → genomic instability with elevated sister-chromatid exchanges (diagnostic). Broad cancer susceptibility: leukemias / lymphomas (childhood), CRC, breast, skin, head/neck, others. Non-cancer: short stature, photosensitive facial erythema, immunodeficiency, diabetes. Common in Ashkenazi-Jewish ancestry (founder variant blmAsh). Heterozygotes may have modestly elevated CRC risk. STUB pending two-Co-Lead signoff.
Used By
Actionability
BMA-BLM-GERMLINE-BLOOM-BROAD- BLM germline biallelic pathogenic variants cause Bloom syndrome — autosomal-recessive dis...