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DLGAP4

Synonyms
DAP-4, DAP4, DLP4, SAPAP-4, SAPAP4
External resources
Summary
The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

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
69
Likely pathogenic
0
VUS
15,475
Likely benign
376
Benign
0

Patient phenotypes

Proportions of phenotypes among 38 patients carring pathogenic or likely pathogenic variants on DLGAP4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
36.8%
Abnormality of the nervous system
28.9%
Abnormality of the ear
18.4%
Abnormality of the eye
18.4%
Abnormality of the digestive system
10.5%
Abnormality of the genitourinary system
7.9%
Abnormality of the integument
7.9%
Abnormality of blood and blood-forming tissues
5.3%
Abnormality of head or neck
5.3%
Abnormality of the musculoskeletal system
5.3%
Abnormality of the immune system
2.6%
Neoplasm
2.6%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%

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