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DLG4

Synonyms
MRD62, PSD95, SAP-90, SAP90
External resources
Summary
This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple 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
6
Likely pathogenic
0
VUS
2,742
Likely benign
9,957
Benign
83

Patient phenotypes

Proportions of phenotypes among 6 patients carring pathogenic or likely pathogenic variants on DLG4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
83.3%
Abnormality of head or neck
50%
Abnormality of the cardiovascular system
50%
Abnormality of the musculoskeletal system
50%
Abnormality of the digestive system
33.3%
Abnormality of the eye
33.3%
Abnormality of limbs
16.7%
Abnormality of the ear
16.7%
Abnormality of the immune system
16.7%
Abnormality of the integument
16.7%
Growth abnormality
16.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
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 genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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