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LRRC29

Synonyms
FBL9, FBXL9
External resources
Summary
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 9 tandem leucine-rich repeats. Two transcript variants encoding the same protein have been found for this gene. Other variants may occur, but their full-length natures have not been characterized.

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
6
Likely pathogenic
176
VUS
3,116
Likely benign
173
Benign
0

Patient phenotypes

Proportions of phenotypes among 182 patients carring pathogenic or likely pathogenic variants on LRRC29 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.6%
Abnormality of the eye
32.4%
Abnormality of the musculoskeletal system
26.4%
Abnormality of head or neck
22.5%
Abnormality of the cardiovascular system
18.1%
Growth abnormality
13.7%
Abnormality of the ear
12.1%
Abnormality of limbs
11%
Abnormality of the digestive system
8.2%
Abnormality of the integument
8.2%
Abnormality of the genitourinary system
6.6%
Abnormality of the immune system
6.6%
Abnormality of blood and blood-forming tissues
4.9%
Abnormality of the endocrine system
2.7%
Abnormality of the respiratory system
2.7%
Neoplasm
2.7%
Abnormality of prenatal development or birth
1.6%
Abnormal cellular phenotype
0.5%
Constitutional symptom
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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