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LILRB5

Synonyms
CD85C, LIR-8, LIR8
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). Several other LIR subfamily B receptors are expressed on immune cells where they bind to MHC class I molecules on antigen-presenting cells and inhibit stimulation of an immune response. 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
49
Likely pathogenic
1
VUS
12,292
Likely benign
38
Benign
0

Patient phenotypes

Proportions of phenotypes among 47 patients carring pathogenic or likely pathogenic variants on LILRB5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.6%
Abnormality of the musculoskeletal system
25.5%
Abnormality of head or neck
17%
Abnormality of the eye
14.9%
Abnormality of the cardiovascular system
12.8%
Abnormality of the ear
10.6%
Abnormality of the integument
10.6%
Abnormality of the genitourinary system
8.5%
Growth abnormality
8.5%
Abnormality of limbs
6.4%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of prenatal development or birth
4.3%
Abnormality of the breast
2.1%
Abnormality of the digestive system
2.1%
Abnormality of the endocrine system
2.1%
Abnormality of the immune system
2.1%
Neoplasm
2.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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