Skeletal Muscle Channelopathies
Gene: PYGM

PYGM (glycogen phosphorylase, muscle associated)
EnsemblGeneIds (GRCh38): ENSG00000068976
EnsemblGeneIds (GRCh37): ENSG00000068976
OMIM: 608455, Gene2Phenotype
PYGM is in 16 panels

2 reviews

Eleanor Williams (Genomics England Curator)

There has been discussion on the GMS Skeletal muscle channelopathy panel (panel 542) whether this gene should be rated green or red as the gene encodes an enzyme not a chanel, but leaving the gene as green on this panel for consistency with the GMS for now.
Created: 20 Jul 2021, 2:23 p.m. | Last Modified: 20 Jul 2021, 2:23 p.m.

Panel Version: 1.37

Created: 20 Jul 2021, 2:23 p.m.
Last Modified: 20 Jul 2021, 2:23 p.m.
Panel version: 1.37

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: The gene was added to the panel as can cause an overlapping phenotype
Created: 21 Feb 2017, 1:48 p.m.

McArdle disease can be in differentials with skeletal muscle channelopathies, as suggested by expert Dr Matthews
Created: 21 Feb 2017, 1:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
McArdle disease, 232600

Created: 21 Feb 2017, 1:43 p.m.

Panel version: 0.57

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review

Phenotypes

McArdle disease, 232600

OMIM

608455

Clinvar variants

Variants in PYGM

Penetrance

Complete

Panels with this gene