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LRG1

Synonyms
HMFT1766, LRG
External resources
Summary
The leucine-rich repeat (LRR) family of proteins, including LRG1, have been shown to be involved in protein-protein interaction, signal transduction, and cell adhesion and development. LRG1 is expressed during granulocyte differentiation (O'Donnell et al., 2002

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
9
Likely pathogenic
0
VUS
945
Likely benign
22
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on LRG1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.4%
Abnormality of head or neck
22.2%
Abnormality of the digestive system
22.2%
Abnormality of the eye
22.2%
Abnormality of the genitourinary system
22.2%
Abnormality of the immune system
22.2%
Growth abnormality
22.2%
Abnormal cellular phenotype
11.1%
Abnormality of prenatal development or birth
11.1%
Abnormality of the ear
11.1%
Abnormality of the integument
11.1%
Abnormality of the musculoskeletal system
11.1%
Constitutional symptom
11.1%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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