GYS2 Chromosome 12
Glycogen synthase 2
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What This Gene Does
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. [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
Glycosyl transferases group 1 domain containing
Locus Type
gene with protein product
Location
12p12.1
Ensembl
ENSG00000111713
Associated Conditions (6)
Glycogen storage disorder due to hepatic glycogen synthase deficiency
Inborn genetic diseases
GYS2-related disorder
Glycogen storage disease
See cases
Thymoma
Key Variants
RS139882761
Conflicting classifications of pathogenicity
Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
Health Risk
RS146660038
Conflicting classifications of pathogenicity
Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
Health Risk
RS148461282
Conflicting classifications of pathogenicity
Glycogen storage disorder due to hepatic glycogen synthase deficiency, Inborn genetic diseases, Glycogen storage disorder due to hepatic glycogen synthase deficiency
Health Risk
RS150433001
Conflicting classifications of pathogenicity
Glycogen storage disorder due to hepatic glycogen synthase deficiency, GYS2-related disorder, Glycogen storage disorder due to hepatic glycogen synthase deficiency
Health Risk
RS182582633
Conflicting classifications of pathogenicity
Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
Health Risk
RS186184722
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS192853475
Conflicting classifications of pathogenicity
Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
Health Risk
RS201503558
Conflicting classifications of pathogenicity
Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
Health Risk
RS267603422
Conflicting classifications of pathogenicity
Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
Health Risk
RS367916210
Conflicting classifications of pathogenicity
Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
Health Risk
RS374841625
Conflicting classifications of pathogenicity
Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
Health Risk
RS376889935
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139882761 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS146660038 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS148461282 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Inborn genetic diseases, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS150433001 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disorder due to hepatic glycogen synthase deficiency, GYS2-related disorder, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS182582633 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS186184722 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS192853475 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS201503558 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS267603422 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS367916210 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS374841625 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS376889935 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376935348 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Inborn genetic diseases, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS540215492 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Glycogen storage disorder due to hepatic glycogen synthase deficiency, Inborn genetic diseases |
| RS571493564 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS767838400 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS77486019 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS777032042 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS1064793142 | Health Risk | Likely pathogenic | — |
| RS1064793143 | Health Risk | Likely pathogenic | — |
| RS121918422 | Health Risk | Likely pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS2136906563 | Health Risk | Likely pathogenic | — |
| RS2136913413 | Health Risk | Likely pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS746120293 | Health Risk | Likely pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS752819982 | Health Risk | Likely pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS756685797 | Health Risk | Likely pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS759886963 | Health Risk | Likely pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS764539267 | Health Risk | Likely pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS766733439 | Health Risk | Likely pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS863224039 | Health Risk | Likely pathogenic | — |
| RS121918424 | Health Risk | Pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS1307281520 | Health Risk | Pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS146195866 | Health Risk | Pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS1555156695 | Health Risk | Pathogenic | — |
| RS201157731 | Health Risk | Pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS2136877292 | Health Risk | Pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS2540534282 | Health Risk | Pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS587776831 | Health Risk | Pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS763671258 | Health Risk | Pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS763929651 | Health Risk | Pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS1199090828 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS121918419 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disease, See cases |
| RS121918420 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS121918421 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS121918423 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS150382575 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS372079212 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, See cases, Glycogen storage disorder due to hepatic glycogen synthase deficiency |
| RS764833435 | Health Risk | Pathogenic/Likely pathogenic | GYS2-related disorder, Glycogen storage disorder due to hepatic glycogen synthase deficiency, GYS2-related disorder |
| RS771205749 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, Glycogen storage disease |
| RS781511110 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disorder due to hepatic glycogen synthase deficiency, GYS2-related disorder, Glycogen storage disorder due to hepatic glycogen synthase deficiency |