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SYNRG

Synonyms
AP1GBP1, SYNG
External resources
Summary
This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. Alternatively spliced transcript variants that encode different isoforms have been described 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
7
Likely pathogenic
5
VUS
7,632
Likely benign
6,858
Benign
0

Patient phenotypes

Proportions of phenotypes among 12 patients carrying pathogenic or likely pathogenic variants on SYNRG gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.3%
Abnormality of the cardiovascular system
16.7%
Abnormality of the eye
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of blood and blood-forming tissues
8.3%
Abnormality of head or neck
8.3%
Abnormality of limbs
8.3%
Abnormality of the endocrine system
8.3%
Abnormality of the integument
8.3%
Abnormality of the musculoskeletal system
8.3%
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 ear
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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