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GLB1

Synonyms
EBP, ELNR1, MPS4B
External resources
Summary
This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome.

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
56
Likely pathogenic
8
VUS
8,475
Likely benign
8,548
Benign
157

Patient phenotypes

Proportions of phenotypes among 64 patients carrying pathogenic or likely pathogenic variants on GLB1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
37.5%
Abnormality of the musculoskeletal system
37.5%
Abnormality of the nervous system
35.9%
Abnormality of the cardiovascular system
25%
Growth abnormality
25%
Abnormality of limbs
21.9%
Abnormality of the integument
20.3%
Abnormality of the eye
14.1%
Abnormality of blood and blood-forming tissues
12.5%
Abnormality of the immune system
12.5%
Abnormality of the ear
7.8%
Abnormality of the digestive system
6.3%
Abnormality of the respiratory system
6.3%
Abnormality of prenatal development or birth
3.1%
Abnormality of the endocrine system
3.1%
Abnormality of the genitourinary system
3.1%
Neoplasm
3.1%
Abnormality of the voice
1.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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