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GBE1

Synonyms
APBD, GBE, GSD4
External resources
Summary
The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease).

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
14
Likely pathogenic
23
VUS
6,510
Likely benign
2,278
Benign
0

Patient phenotypes

Proportions of phenotypes among 37 patients carrying pathogenic or likely pathogenic variants on GBE1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
32.4%
Abnormality of the nervous system
29.7%
Abnormality of the eye
18.9%
Abnormality of the cardiovascular system
16.2%
Abnormality of the digestive system
16.2%
Abnormality of limbs
13.5%
Abnormality of the immune system
13.5%
Abnormality of the integument
13.5%
Abnormality of blood and blood-forming tissues
10.8%
Abnormality of head or neck
10.8%
Growth abnormality
10.8%
Abnormality of the genitourinary system
8.1%
Abnormality of the ear
5.4%
Constitutional symptom
5.4%
Neoplasm
5.4%
Abnormality of the endocrine system
2.7%
Abnormality of the respiratory system
2.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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