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GYS2

Synonyms
-
External resources
Summary
The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content.

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
17
Likely pathogenic
3
VUS
1,123
Likely benign
2,984
Benign
1,240

Patient Phenotypes

Proportions of phenotypes among 20 patients carrying pathogenic or likely pathogenic variants on GYS2 gene are displayed below. The following symptoms were found in patients with a variant in GYS2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
55%
Abnormality of the nervous system
55%
Abnormality of the eye
40%
Abnormality of head or neck
30%
Growth abnormality
20%
Abnormality of limbs
15%
Abnormality of the cardiovascular system
15%
Abnormality of the integument
15%
Abnormality of the digestive system
10%
Abnormality of the ear
10%
Abnormality of the respiratory system
10%
Constitutional symptom
10%
Abnormality of blood and blood forming tissues
5%
Abnormality of metabolism homeostasis
5%
Abnormality of the endocrine system
5%
Abnormality of the genitourinary system
5%
Abnormality of the immune system
5%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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