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PCLO

Synonyms
ACZ, PCH3
External resources
Summary
The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene.

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
39
Likely pathogenic
0
VUS
9,550
Likely benign
11,849
Benign
745

Patient phenotypes

Proportions of phenotypes among 25 patients carrying pathogenic or likely pathogenic variants on PCLO gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
36%
Abnormality of the nervous system
28%
Abnormality of the eye
20%
Abnormality of the immune system
12%
Abnormality of the musculoskeletal system
12%
Abnormality of blood and blood-forming tissues
8%
Abnormality of head or neck
8%
Abnormality of the digestive system
8%
Abnormality of the integument
8%
Abnormality of limbs
4%
Abnormality of prenatal development or birth
4%
Abnormality of the ear
4%
Abnormality of the endocrine system
4%
Abnormality of the genitourinary system
4%
Growth abnormality
4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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