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LILRB1

Synonyms
CD85J, ILT-2, ILT2, LIR-1, LIR1, MIR-7, MIR7, PIR-B, PIRB
External resources
Summary
This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene.

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
61
Likely pathogenic
257
VUS
64,105
Likely benign
8,287
Benign
0

Patient phenotypes

Proportions of phenotypes among 186 patients carring pathogenic or likely pathogenic variants on LILRB1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.5%
Abnormality of the musculoskeletal system
38.2%
Abnormality of the eye
33.3%
Abnormality of head or neck
28%
Growth abnormality
14.5%
Abnormality of limbs
14%
Abnormality of the ear
12.9%
Abnormality of the integument
12.4%
Abnormality of the cardiovascular system
8.6%
Abnormality of the genitourinary system
7.5%
Abnormality of the digestive system
7%
Abnormality of the respiratory system
7%
Abnormality of blood and blood-forming tissues
5.9%
Abnormality of the immune system
4.8%
Abnormality of the endocrine system
3.8%
Neoplasm
3.2%
Abnormal cellular phenotype
1.1%
Abnormality of prenatal development or birth
1.1%
Constitutional symptom
1.1%
Abnormality of the voice
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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