BLM Chromosome 15
BLM RecQ like helicase
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What This Gene Does
The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020]
Gene Info
Gene Group
"RecQ like helicases|BRCA1-associated genome surveillance complex"
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000197299
Associated Conditions (14)
Olaparib response
Bloom syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
BLM-related disorder
Microcephaly
Lung cancer
Ovarian serous cystadenocarcinoma
Hereditary cancer
Familial cancer of breast
Ovarian cancer
Colorectal cancer
Uterine corpus endometrial carcinoma
Endometrial carcinoma
Key Variants
RS2151152258
drug response
Olaparib response, Olaparib response
Drug Response
RS2151184569
drug response
Olaparib response, Olaparib response
Drug Response
RS1018540956
Conflicting classifications of pathogenicity
Bloom syndrome, Hereditary cancer-predisposing syndrome, Bloom syndrome
Health Risk
RS1022898915
Conflicting classifications of pathogenicity
Bloom syndrome, Hereditary cancer-predisposing syndrome, Bloom syndrome
Health Risk
RS1031421025
Conflicting classifications of pathogenicity
Bloom syndrome, Hereditary cancer-predisposing syndrome, Bloom syndrome
Health Risk
RS1038386076
Conflicting classifications of pathogenicity
Bloom syndrome, Hereditary cancer-predisposing syndrome, Bloom syndrome
Health Risk
RS1057516261
Conflicting classifications of pathogenicity
Bloom syndrome, Hereditary cancer-predisposing syndrome, Bloom syndrome
Health Risk
RS1057516593
Conflicting classifications of pathogenicity
Bloom syndrome, Hereditary cancer-predisposing syndrome, Bloom syndrome
Health Risk
RS1161787867
Conflicting classifications of pathogenicity
Bloom syndrome, Hereditary cancer-predisposing syndrome, Bloom syndrome
Health Risk
RS1180631656
Conflicting classifications of pathogenicity
Bloom syndrome, Hereditary cancer-predisposing syndrome, Bloom syndrome
Health Risk
RS1208652152
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1237910576
Conflicting classifications of pathogenicity
Bloom syndrome, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
Health Risk
All Variants (713)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754203833 | Health Risk | Pathogenic/Likely pathogenic | Bloom syndrome, Hereditary cancer-predisposing syndrome, Bloom syndrome |
| RS768777000 | Health Risk | Pathogenic/Likely pathogenic | Bloom syndrome, Bloom syndrome |
| RS770311534 | Health Risk | Pathogenic/Likely pathogenic | Bloom syndrome, Hereditary cancer-predisposing syndrome, Bloom syndrome |
| RS770592505 | Health Risk | Pathogenic/Likely pathogenic | Bloom syndrome, Bloom syndrome |
| RS779934502 | Health Risk | Pathogenic/Likely pathogenic | Bloom syndrome, Hereditary cancer-predisposing syndrome, Bloom syndrome |
| RS780379121 | Health Risk | Pathogenic/Likely pathogenic | Bloom syndrome, Hereditary cancer-predisposing syndrome, Bloom syndrome |
| RS781221411 | Health Risk | Pathogenic/Likely pathogenic | Bloom syndrome, Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS786204471 | Health Risk | Pathogenic/Likely pathogenic | Bloom syndrome, Hereditary cancer-predisposing syndrome, Bloom syndrome |
| RS786204524 | Health Risk | Pathogenic/Likely pathogenic | Bloom syndrome, Hereditary cancer-predisposing syndrome, Bloom syndrome |
| RS864622347 | Health Risk | Pathogenic/Likely pathogenic | Bloom syndrome, Hereditary cancer-predisposing syndrome, Bloom syndrome |
| RS887921909 | Health Risk | Pathogenic/Likely pathogenic | Bloom syndrome, Bloom syndrome |
| RS918752814 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Bloom syndrome, Hereditary cancer-predisposing syndrome |
| RS960430492 | Health Risk | Pathogenic/Likely pathogenic | Bloom syndrome, Hereditary cancer-predisposing syndrome, Bloom syndrome |