PYGM Chromosome 11
Glycogen phosphorylase, muscle associated
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What This Gene Does
This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Glycogen phosphorylases
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000068976
Associated Conditions (17)
Glycogen storage disease
type V
PYGM-related disorder
Inborn genetic diseases
Tip-toe gait
EBV-positive nodal T- and NK-cell lymphoma
Malignant tumor of esophagus
Familial cancer of breast
Hepatocellular carcinoma
Lung cancer
Rhabdomyolysis
Acute rhabdomyolysis
Abnormality of metabolism/homeostasis
See cases
Hereditary skeletal muscle disorder
McArdle disease
mild
Key Variants
RS1016613332
Conflicting classifications of pathogenicity
Glycogen storage disease, type V, Glycogen storage disease
Health Risk
RS1025560272
Conflicting classifications of pathogenicity
Glycogen storage disease, type V, Glycogen storage disease
Health Risk
RS1045215677
Conflicting classifications of pathogenicity
Glycogen storage disease, type V, PYGM-related disorder
Health Risk
RS1131691807
Conflicting classifications of pathogenicity
Glycogen storage disease, type V, Glycogen storage disease
Health Risk
RS114468011
Conflicting classifications of pathogenicity
Glycogen storage disease, type V, PYGM-related disorder
Health Risk
RS114742918
Conflicting classifications of pathogenicity
Glycogen storage disease, type V, PYGM-related disorder
Health Risk
RS115347245
Conflicting classifications of pathogenicity
Glycogen storage disease, type V, Inborn genetic diseases
Health Risk
RS115942812
Conflicting classifications of pathogenicity
Glycogen storage disease, type V, Glycogen storage disease
Health Risk
RS116135678
Conflicting classifications of pathogenicity
Glycogen storage disease, type V, Tip-toe gait
Health Risk
RS116180923
Conflicting classifications of pathogenicity
Glycogen storage disease, type V, Inborn genetic diseases
Health Risk
RS116315896
Conflicting classifications of pathogenicity
Glycogen storage disease, type V, Inborn genetic diseases
Health Risk
RS116812032
Conflicting classifications of pathogenicity
Glycogen storage disease, type V, PYGM-related disorder
Health Risk
All Variants (313)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS753533515 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type V, Glycogen storage disease |
| RS757681143 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type V, PYGM-related disorder |
| RS760654579 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type V, Glycogen storage disease |
| RS761438921 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type V, Glycogen storage disease |
| RS764313717 | Health Risk | Pathogenic/Likely pathogenic | McArdle disease, mild, Glycogen storage disease |
| RS764823441 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type V, Glycogen storage disease |
| RS766199191 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type V, Glycogen storage disease |
| RS767739769 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type V, Acute rhabdomyolysis |
| RS769960481 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type V, Glycogen storage disease |
| RS770037766 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type V, Glycogen storage disease |
| RS771427957 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Glycogen storage disease, type V |
| RS776680924 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type V, Glycogen storage disease |
| RS886041476 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type V, Glycogen storage disease |