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PNLIPRP2

Synonyms
PLRP2
External resources
Summary
This gene encodes a lipase that hydrolyzes galactolipids, the main components of plant membrane lipids. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the non-coding allele.

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
38
Likely pathogenic
0
VUS
6,565
Likely benign
420
Benign
0

Patient Phenotypes

Proportions of phenotypes among 32 patients carrying pathogenic or likely pathogenic variants on PNLIPRP2 gene are displayed below. The following symptoms were found in patients with a variant in PNLIPRP2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
43.8%
Abnormality of the eye
28.1%
Abnormality of the musculoskeletal system
28.1%
Abnormality of head or neck
25%
Growth abnormality
25%
Abnormality of the immune system
18.8%
Abnormality of the digestive system
15.6%
Abnormality of the ear
15.6%
Abnormality of limbs
12.5%
Abnormality of the cardiovascular system
12.5%
Abnormality of prenatal development or birth
9.4%
Abnormality of the genitourinary system
9.4%
Abnormality of the integument
9.4%
Neoplasm
9.4%
Abnormality of blood and blood forming tissues
6.3%
Abnormality of the respiratory system
6.3%
Abnormality of metabolism homeostasis
3.1%
Abnormality of the breast
3.1%
Abnormality of the endocrine system
3.1%
Abnormal cellular phenotype
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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