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PLCZ1

Synonyms
NYD-SP27, PLC-zeta-1, PLCzeta, SPGF17
External resources
Summary
The protein encoded by this gene is a member of the phosphoinositide-specific phospholipase C family. Members in this family, classified into six isotypes that are tissue- and organ-specific, hydrolyze phosphatidylinositol 4,5-bisphosphate just before the phosphate group to yield diacylglycerol and inositol 1,4,5-trisphosphate. This protein localizes to the acrosome in spermatozoa and elicits Ca(2+) oscillations and egg activation during fertilization that leads to early embryonic development. Alternative splicing results in multiple transcript variants.

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
22
Likely pathogenic
2
VUS
12,421
Likely benign
2,739
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carrying pathogenic or likely pathogenic variants on PLCZ1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.4%
Abnormality of the cardiovascular system
27.3%
Abnormality of the ear
18.2%
Abnormality of the eye
13.6%
Abnormality of the musculoskeletal system
13.6%
Abnormality of head or neck
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of the immune system
9.1%
Growth abnormality
9.1%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of prenatal development or birth
4.5%
Abnormality of the integument
4.5%
Abnormality of the respiratory system
4.5%
Abnormal cellular phenotype
0%
Abnormality of limbs
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%
Neoplasm
0%

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