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GGA3

Synonyms
-
External resources
Summary
This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants have been identified in 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
16
VUS
5,857
Likely benign
65
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carring pathogenic or likely pathogenic variants on GGA3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
22.7%
Abnormality of the nervous system
22.7%
Abnormality of head or neck
18.2%
Abnormality of blood and blood-forming tissues
13.6%
Abnormality of the cardiovascular system
13.6%
Growth abnormality
13.6%
Abnormality of the digestive system
9.1%
Abnormality of the endocrine system
9.1%
Abnormality of the eye
9.1%
Abnormality of the immune system
9.1%
Abnormality of the ear
4.5%
Abnormality of the genitourinary system
4.5%
Abnormality of the respiratory system
4.5%
Neoplasm
4.5%
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 integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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