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LRIG2

Synonyms
LIG-2, LIG2, UFS2
External resources
Summary
This gene encodes a transmembrane protein containing leucine-rich repeats and immunoglobulin-like domains. The encoded protein promotes epidermal growth factor signalling, resulting in increased proliferation. Its expression in the cytoplasm of glioma cells is correlated with poor survival. Mutations in this gene can cause urofacial syndrome. Alternative splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
10
Likely pathogenic
0
VUS
4,402
Likely benign
10,361
Benign
142

Patient phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on LRIG2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
30%
Abnormality of the cardiovascular system
30%
Abnormality of the eye
20%
Abnormality of the nervous system
20%
Abnormality of limbs
10%
Abnormality of the endocrine system
10%
Abnormality of the genitourinary system
10%
Abnormality of the integument
10%
Abnormality of the musculoskeletal system
10%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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