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GBA

Synonyms
GBA1, GCB, GLUC
External resources
Summary
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants.

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
85
Likely pathogenic
36
VUS
5,269
Likely benign
15,149
Benign
392

Patient phenotypes

Proportions of phenotypes among 119 patients carrying pathogenic or likely pathogenic variants on GBA gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42%
Abnormality of the eye
26.9%
Abnormality of the musculoskeletal system
26.9%
Abnormality of head or neck
16.8%
Abnormality of the cardiovascular system
15.1%
Abnormality of the integument
14.3%
Growth abnormality
10.9%
Abnormality of the ear
10.1%
Abnormality of the digestive system
9.2%
Abnormality of limbs
8.4%
Abnormality of the genitourinary system
7.6%
Abnormality of the immune system
7.6%
Abnormality of blood and blood-forming tissues
4.2%
Abnormality of the endocrine system
3.4%
Neoplasm
3.4%
Constitutional symptom
2.5%
Abnormality of the breast
1.7%
Abnormal cellular phenotype
0.8%
Abnormality of prenatal development or birth
0.8%
Abnormality of the respiratory system
0.8%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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