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ZP2

Synonyms
OOMD6, ZPA, Zp-2
External resources
Summary
The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed of three glycoproteins with various functions during fertilization and preimplantation development. The glycosylated mature peptide is one of the structural components of the zona pellucida and functions in secondary binding and penetration of acrosome-reacted spermatozoa. Female mice lacking this gene do not form a stable zona matrix and are sterile. 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
11
Likely pathogenic
0
VUS
3,081
Likely benign
788
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on ZP2 gene are displayed below.

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

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