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LGALS13

Synonyms
GAL13, PLAC8, PP13
External resources
Summary
Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene has lysophospholipase activity. It is composed of two identical subunits which are held together by disulfide bonds. This protein has structural similarity to several members of the beta-galactoside-binding S-type lectin family.

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
26
Likely pathogenic
4
VUS
364
Likely benign
5
Benign
0

Patient phenotypes

Proportions of phenotypes among 20 patients carring pathogenic or likely pathogenic variants on LGALS13 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of head or neck
25%
Abnormality of the eye
25%
Abnormality of the musculoskeletal system
25%
Abnormality of the digestive system
15%
Abnormality of the ear
15%
Abnormality of the genitourinary system
15%
Growth abnormality
15%
Abnormality of limbs
5%
Abnormality of the breast
5%
Abnormality of the cardiovascular system
5%
Neoplasm
5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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