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GOLGA8A

Synonyms
CFAP286, FAP286, GM88, GOLGA8B
External resources
Summary
The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked, flattened membrane sacs referred to as cisternae. Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins constitute a family of proteins which are localized to the Golgi. This gene encodes a golgin which structurally resembles its family member GOLGA2, suggesting that they may share a similar function. There are many similar copies of this gene on chromosome 15. Alternative splicing results in multiple transcript variants.

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
18
Likely pathogenic
86
VUS
26,217
Likely benign
2,048
Benign
0

Patient phenotypes

Proportions of phenotypes among 104 patients carring pathogenic or likely pathogenic variants on GOLGA8A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
62.5%
Abnormality of the musculoskeletal system
47.1%
Abnormality of head or neck
38.5%
Growth abnormality
25%
Abnormality of the ear
22.1%
Abnormality of limbs
21.2%
Abnormality of the cardiovascular system
21.2%
Abnormality of the digestive system
20.2%
Abnormality of the eye
20.2%
Abnormality of the genitourinary system
16.3%
Abnormality of the integument
16.3%
Abnormality of the respiratory system
14.4%
Abnormality of the endocrine system
7.7%
Abnormality of blood and blood-forming tissues
3.8%
Abnormality of the immune system
3.8%
Abnormality of prenatal development or birth
1.9%
Abnormality of the breast
1.9%
Abnormality of the voice
1%
Constitutional symptom
1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Neoplasm
0%

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