Skeletal muscle channelopathy

Gene: PYGM

Green List (high evidence)

PYGM (glycogen phosphorylase, muscle associated)
EnsemblGeneIds (GRCh38): ENSG00000068976
EnsemblGeneIds (GRCh37): ENSG00000068976
OMIM: 608455, Gene2Phenotype
PYGM is in 15 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Leaving the rating as green, but with a recommendation for a red rating following GMS review because 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: 9 Jun 2021, 10 a.m.
Panel Version: 1.26

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
McArdle disease, 232600

Publications

  • Wu et al 2011 Mol Genet Metab 104, 587-91 PMID: 21880526

History Filter Activity

9 Jun 2021, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_phenotype tag was added to gene: PYGM.

9 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pygm has been classified as Green List (High Evidence).

9 Jun 2021, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: PYGM.

16 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PYGM were changed from McArdle disease, 232600 to McArdle disease OMIM:232600

25 Oct 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene PYGM were changed from to 21880526

25 Oct 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PYGM.

25 Oct 2019, Gel status: 3

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

25 Oct 2019, Gel status: 3

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)

25 Oct 2019, Gel status: 1

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