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MGAM

Synonyms
MG, MGA
External resources
Summary
This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homologous. Both are members of glycosyl hydrolase family 31, which has a variety of substrate specificities.

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
40
Likely pathogenic
65
VUS
20,998
Likely benign
2,507
Benign
0

Patient Phenotypes

Proportions of phenotypes among 105 patients carrying pathogenic or likely pathogenic variants on MGAM gene are displayed below. The following symptoms were found in patients with a variant in MGAM. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
35.2%
Abnormality of the nervous system
30.5%
Abnormality of the musculoskeletal system
23.8%
Abnormality of the ear
18.1%
Abnormality of head or neck
17.1%
Abnormality of the cardiovascular system
11.4%
Abnormality of the genitourinary system
9.5%
Abnormality of limbs
7.6%
Growth abnormality
7.6%
Abnormality of metabolism homeostasis
6.7%
Abnormality of blood and blood forming tissues
4.8%
Abnormality of prenatal development or birth
4.8%
Abnormality of the integument
4.8%
Abnormality of the digestive system
2.9%
Abnormality of the endocrine system
2.9%
Abnormality of the immune system
2.9%
Neoplasm
2.9%
Abnormality of the respiratory system
1.9%
Constitutional symptom
1%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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