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BLK

Synonyms
MODY11
External resources
Summary
This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors.

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
25
Likely pathogenic
1
VUS
884
Likely benign
1,024
Benign
713

Patient Phenotypes

Proportions of phenotypes among 26 patients carrying pathogenic or likely pathogenic variants on BLK gene are displayed below. The following symptoms were found in patients with a variant in BLK. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
34.6%
Abnormality of the nervous system
26.9%
Abnormality of head or neck
23.1%
Abnormality of the ear
23.1%
Abnormality of the eye
15.4%
Abnormality of the cardiovascular system
11.5%
Abnormality of blood and blood forming tissues
7.7%
Abnormality of the digestive system
7.7%
Abnormality of the integument
7.7%
Abnormality of limbs
3.8%
Abnormality of prenatal development or birth
3.8%
Abnormality of the respiratory system
3.8%
Growth abnormality
3.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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