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FRMPD4

Synonyms
MRX104, PDZD10, PDZK10
External resources
Summary
This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission.

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
48
Likely pathogenic
0
VUS
1,561
Likely benign
5,712
Benign
913

Patient phenotypes

Proportions of phenotypes among 16 patients carring pathogenic or likely pathogenic variants on FRMPD4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
50%
Abnormality of the nervous system
31.3%
Abnormality of head or neck
18.8%
Abnormality of the digestive system
12.5%
Abnormality of the ear
12.5%
Growth abnormality
12.5%
Abnormality of prenatal development or birth
6.3%
Abnormality of the cardiovascular system
6.3%
Abnormality of the musculoskeletal system
6.3%
Neoplasm
6.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary 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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