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MANBA

Synonyms
MANB1
External resources
Summary
This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement.

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
16
Likely pathogenic
7
VUS
6,153
Likely benign
7,519
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carrying pathogenic or likely pathogenic variants on MANBA gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.4%
Abnormality of head or neck
27.3%
Abnormality of the musculoskeletal system
22.7%
Growth abnormality
22.7%
Abnormality of the ear
18.2%
Abnormality of the eye
13.6%
Abnormality of limbs
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of the immune system
9.1%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of the cardiovascular system
4.5%
Abnormality of the digestive system
4.5%
Abnormality of the endocrine system
4.5%
Abnormality of the integument
4.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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