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BLM

Synonyms
BS, MGRISCE1, RECQ2, RECQL2, RECQL3
External resources
Summary
The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
951
Likely pathogenic
361
VUS
2,064
Likely benign
1,373
Benign
1,657

Patient Phenotypes

Proportions of phenotypes among 1306 patients carrying pathogenic or likely pathogenic variants on BLM gene are displayed below. The following symptoms were found in patients with a variant in BLM. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.1%
Abnormality of the musculoskeletal system
29.1%
Abnormality of the eye
28%
Abnormality of head or neck
21.5%
Abnormality of the cardiovascular system
18.8%
Abnormality of the ear
14%
Growth abnormality
12.8%
Abnormality of the integument
11.9%
Abnormality of limbs
10.3%
Abnormality of the genitourinary system
9.6%
Abnormality of metabolism homeostasis
9.1%
Abnormality of the digestive system
8.7%
Abnormality of the immune system
6.7%
Abnormality of blood and blood forming tissues
4.7%
Abnormality of the endocrine system
4%
Abnormality of prenatal development or birth
3.1%
Abnormality of the respiratory system
3%
Neoplasm
2.5%
Constitutional symptom
2%
Abnormality of the breast
0.8%
Abnormal cellular phenotype
0.7%
Abnormality of the voice
0.5%
Abnormality of the thoracic cavity
0%

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