Skeletal muscle channelopathy
Gene: PYGMEnsemblGeneIds (GRCh38): ENSG00000068976
EnsemblGeneIds (GRCh37): ENSG00000068976
OMIM: 608455, Gene2Phenotype
PYGM is in 16 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green. Additional comments from reviewing GLHs: ' McArdles disease can resemble skeletal muscle channelopathies, the phenotype of muscle cramps, weakness and myalgia is similar. We would not wish to miss the diagnosis. e.g. Xie (2020) J Endocrinol Invest 43: 697 PMID: 32100198.'Created: 1 Feb 2023, 3:16 p.m. | Last Modified: 1 Feb 2023, 3:16 p.m.
Panel Version: 2.4
Eleanor Williams (Genomics England Curator)
Comment on list classification: Leaving rating as Green but with a recommendation for review by the GMS test evaluation group as to suitability for this panel. This gene encodes an enzyme not a channel. However, the phenotype may overlap with channelopathies.Created: 9 Jun 2021, 9:58 a.m. | Last Modified: 20 Jul 2021, 2:21 p.m.
Panel Version: 1.31
Zornitza Stark (Australian Genomics)
PYGM gene encodes the muscle isoform of glycogen phosphorylase, not a channel.Created: 20 Aug 2020, 8:52 a.m. | Last Modified: 20 Aug 2020, 8:52 a.m.
Panel Version: 1.4
Phenotypes
McArdle disease, 232600
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
McArdle disease, 232600
Publications
- Wu et al 2011 Mol Genet Metab 104, 587-91 PMID: 21880526
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- McArdle disease OMIM:232600
- OMIM
- 608455
- Clinvar variants
- Variants in PYGM
- Penetrance
- None
- Publications
- 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
Removed Tag, Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_21_rating was removed from gene: PYGM. Tag Q2_21_phenotype was removed from gene: PYGM. Tag Q2_21_expert_review was removed from gene: PYGM.
Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating tag was added to gene: PYGM. Tag Q2_21_expert_review tag was added to gene: PYGM.
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: PYGM.
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_phenotype tag was added to gene: PYGM.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: pygm has been classified as Green List (High Evidence).
Added Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating tag was added to gene: PYGM.
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: PYGM were changed from McArdle disease, 232600 to McArdle disease OMIM:232600
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene PYGM were changed from to 21880526
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PYGM.
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene PYGM was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes McArdle disease, 232600 for gene: PYGM
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to PYGM. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: PYGM was added gene: PYGM was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: PYGM was set to