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DLGAP2

Synonyms
C8orf68, DAP2, ERICH1-AS1, SAPAP2
External resources
Summary
The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified.

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
4
Likely pathogenic
0
VUS
8,744
Likely benign
447
Benign
0

Patient phenotypes

Proportions of phenotypes among 4 patients carring pathogenic or likely pathogenic variants on DLGAP2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
75%
Abnormality of head or neck
50%
Abnormality of the cardiovascular system
50%
Abnormality of the digestive system
50%
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
50%
Abnormality of limbs
25%
Abnormality of prenatal development or birth
25%
Abnormality of the ear
25%
Abnormality of the immune system
25%
Abnormality of the integument
25%
Abnormality of the voice
25%
Growth abnormality
25%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
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 respiratory system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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