Home > Gene Browser > AGL

AGL

Synonyms
GDE
External resources
Summary
This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described.

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
0
VUS
3,114
Likely benign
2,280
Benign
4,626

Patient phenotypes

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

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
24.3%
Abnormality of the eye
24.3%
Abnormality of the nervous system
24.3%
Abnormality of the ear
18.9%
Abnormality of the musculoskeletal system
18.9%
Abnormality of head or neck
16.2%
Abnormality of the digestive system
8.1%
Abnormality of the immune system
8.1%
Abnormality of the integument
8.1%
Abnormality of limbs
5.4%
Abnormality of the genitourinary system
5.4%
Growth abnormality
5.4%
Abnormality of blood and blood-forming tissues
2.7%
Abnormality of prenatal development or birth
2.7%
Abnormality of the respiratory system
2.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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