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FRMPD4

Synonyms
MRX104, PDZD10, PDZK10, XLID104
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

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
50
Likely pathogenic
0
VUS
1,634
Likely benign
4,279
Benign
1,362

Patient phenotypes

Proportions of phenotypes among 18 patients carrying pathogenic or likely pathogenic variants on FRMPD4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
55.6%
Abnormality of the nervous system
27.8%
Abnormality of head or neck
16.7%
Abnormality of the digestive system
11.1%
Abnormality of the ear
11.1%
Growth abnormality
11.1%
Abnormality of prenatal development or birth
5.6%
Abnormality of the cardiovascular system
5.6%
Abnormality of the musculoskeletal system
5.6%
Neoplasm
5.6%
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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