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LRRC32

Synonyms
CPPRDD, D11S833E, GARP
External resources
Summary
This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies.

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
52
Likely pathogenic
0
VUS
9,347
Likely benign
1,001
Benign
0

Patient phenotypes

Proportions of phenotypes among 34 patients carrying pathogenic or likely pathogenic variants on LRRC32 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.2%
Abnormality of the cardiovascular system
20.6%
Abnormality of the digestive system
14.7%
Abnormality of the eye
14.7%
Abnormality of the musculoskeletal system
14.7%
Growth abnormality
14.7%
Abnormality of head or neck
11.8%
Abnormality of limbs
11.8%
Abnormality of the endocrine system
11.8%
Abnormality of the immune system
11.8%
Abnormality of the ear
8.8%
Abnormality of the genitourinary system
8.8%
Abnormality of prenatal development or birth
2.9%
Abnormality of the integument
2.9%
Abnormality of the voice
2.9%
Constitutional symptom
2.9%
Neoplasm
2.9%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%

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