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GBGT1

Synonyms
A3GALNT, FS, UNQ2513
External resources
Summary
This gene encodes a glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this protein may determine host tropism to microorganisms. 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
14
Likely pathogenic
16
VUS
1,932
Likely benign
636
Benign
0

Patient Phenotypes

Proportions of phenotypes among 29 patients carrying pathogenic or likely pathogenic variants on GBGT1 gene are displayed below. The following symptoms were found in patients with a variant in GBGT1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
51.7%
Abnormality of the nervous system
41.4%
Abnormality of head or neck
31%
Abnormality of the musculoskeletal system
31%
Abnormality of limbs
20.7%
Abnormality of the ear
17.2%
Abnormality of the cardiovascular system
13.8%
Abnormality of the digestive system
10.3%
Abnormality of the genitourinary system
10.3%
Abnormality of the integument
10.3%
Growth abnormality
10.3%
Abnormality of the immune system
6.9%
Abnormality of blood and blood forming tissues
3.4%
Abnormality of metabolism homeostasis
3.4%
Abnormality of the endocrine system
3.4%
Abnormality of the respiratory system
3.4%
Neoplasm
3.4%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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