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PLA2R1

Synonyms
CLEC13C, PLA2-R, PLA2G1R, PLA2IR, PLA2R
External resources
Summary
This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.

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
39
Likely pathogenic
11
VUS
6,715
Likely benign
839
Benign
0

Patient phenotypes

Proportions of phenotypes among 50 patients carring pathogenic or likely pathogenic variants on PLA2R1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46%
Abnormality of the musculoskeletal system
42%
Abnormality of head or neck
36%
Abnormality of the eye
24%
Growth abnormality
16%
Abnormality of limbs
12%
Abnormality of the digestive system
10%
Abnormality of the genitourinary system
10%
Abnormality of blood and blood-forming tissues
6%
Abnormality of the immune system
6%
Abnormality of the integument
6%
Abnormality of prenatal development or birth
4%
Abnormality of the cardiovascular system
4%
Abnormality of the ear
4%
Abnormality of the respiratory system
4%
Neoplasm
4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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