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FRMPD2

Synonyms
PDZD5C, PDZK4, PDZK5C
External resources
Summary
This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants.

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
87
Likely pathogenic
52
VUS
7,093
Likely benign
1,024
Benign
0

Patient phenotypes

Proportions of phenotypes among 137 patients carring pathogenic or likely pathogenic variants on FRMPD2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46%
Abnormality of the musculoskeletal system
32.8%
Abnormality of the eye
28.5%
Abnormality of head or neck
25.5%
Abnormality of the integument
18.2%
Abnormality of the ear
14.6%
Abnormality of limbs
13.9%
Abnormality of the cardiovascular system
13.1%
Abnormality of the immune system
13.1%
Abnormality of the digestive system
11.7%
Growth abnormality
10.9%
Abnormality of blood and blood-forming tissues
7.3%
Abnormality of the respiratory system
5.8%
Abnormality of the genitourinary system
3.6%
Neoplasm
3.6%
Abnormal cellular phenotype
2.9%
Constitutional symptom
2.9%
Abnormality of the endocrine system
2.2%
Abnormality of prenatal development or birth
0.7%
Abnormality of the breast
0.7%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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