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LRIT3

Synonyms
CSNB1F, FIGLER4
External resources
Summary
This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F.

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
17
VUS
1,228
Likely benign
5,404
Benign
226

Patient phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on LRIT3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
58.3%
Abnormality of head or neck
25%
Abnormality of the genitourinary system
25%
Abnormality of the cardiovascular system
16.7%
Abnormality of the musculoskeletal system
16.7%
Growth abnormality
16.7%
Abnormality of blood and blood-forming tissues
8.3%
Abnormality of the endocrine system
8.3%
Abnormality of the eye
8.3%
Abnormality of the immune system
8.3%
Abnormality of the integument
8.3%
Abnormal cellular phenotype
0%
Abnormality of limbs
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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