BLM
Chr 15ARBLM RecQ like helicase
The BLM protein is an ATP-dependent DNA helicase that unwinds double-stranded DNA, participates in DNA replication and repair, and resolves complex DNA structures including Holliday junctions and G-quadruplex DNA to maintain genome stability. Biallelic mutations cause Bloom syndrome, an autosomal recessive disorder characterized by growth deficiency, microcephaly, and immunodeficiency. The gene is highly constrained against loss-of-function variants in the population, reflecting its essential cellular function.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
BLM · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Phase 1/1B Study of ST-01156, a Small Molecule RBM39 Degrader, in Patients With Advanced Solid Malignancies
RECRUITINGA Study of Pembrolizumab and Olaparib for People With Metastatic Pancreatic Ductal Adenocarcinoma and Homologous Recombination Deficiency or Exceptional Treatment Response to Platinum-Based Therapy
ACTIVE NOT RECRUITINGStudy of Two Doses of Crizanlizumab Versus Placebo in Adolescent and Adult Sickle Cell Disease Patients
ACTIVE NOT RECRUITINGOnco-Genomas Brasil: Mapping Breast and Prostate Cancer in the Brazilian Public Health System
RECRUITINGGenetic Variants in Stroke
NOT YET RECRUITINGStudy of SBRT/Olaparib Followed by Pembrolizumab/Olaparib in Gastric Cancers
ACTIVE NOT RECRUITINGGenetic Susceptibility to Bladder Cancer
ACTIVE NOT RECRUITINGNational Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry
RECRUITINGExternal Resources
Links to major genomics databases and tools