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Glycogen storage disease V
Gene: PYGM
PYGM (glycogen phosphorylase, muscle associated)
EnsemblGeneIds (GRCh38): ENSG00000068976
EnsemblGeneIds (GRCh37): ENSG00000068976
OMIM: 608455, Gene2Phenotype
PYGM is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000068976
EnsemblGeneIds (GRCh37): ENSG00000068976
OMIM: 608455, Gene2Phenotype
PYGM is in 16 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #232600) and the OMIM record was last accessed on 18 December 2025.Created: 19 Dec 2025, 10:19 p.m. | Last Modified: 19 Dec 2025, 10:19 p.m.
Panel Version: 1.2
PYGM has been added to the panel for R273 Glycogen storage disease V with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 1:21 p.m. | Last Modified: 30 Jun 2023, 1:21 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- McArdle disease, OMIM:232600
- glycogen storage disease V, MONDO:0009293
- OMIM
- 608455
- Clinvar variants
- Variants in PYGM
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Ketotic hypoglycaemia
- Hyperammonaemia
- Skeletal muscle channelopathy
- Retinal disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Arthrogryposis
- Glycogen storage disease V
- Glycogen storage disease
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
History Filter Activity
19 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: PYGM were changed from Glycogen storage disease V, OMIM:232600; glycogen storage disease V, MONDO:0009293 to McArdle disease, OMIM:232600; glycogen storage disease V, MONDO:0009293
19 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: PYGM were changed from to Glycogen storage disease V, OMIM:232600; glycogen storage disease V, MONDO:0009293
29 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: PYGM was added gene: PYGM was added to Glycogen storage disease V. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal