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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

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
4
Likely pathogenic
2
VUS
6,354
Likely benign
6,902
Benign
66

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
66.7%
Abnormality of head or neck
50%
Abnormality of the musculoskeletal system
33.3%
Abnormality of blood and blood-forming tissues
16.7%
Abnormality of limbs
16.7%
Abnormality of the cardiovascular system
16.7%
Abnormality of the ear
16.7%
Abnormality of the eye
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of the integument
16.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune 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%
Neoplasm
0%

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