Skeletal muscle channelopathy
Gene: PYGMAfter 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
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
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
McArdle disease, 232600
Publications
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.
Tag Q2_21_rating tag was added to gene: PYGM. Tag Q2_21_expert_review tag was added to gene: PYGM.
Tag Q2_21_rating was removed from gene: PYGM.
Tag Q2_21_phenotype tag was added to gene: PYGM.
Gene: pygm has been classified as Green List (High Evidence).
Tag Q2_21_rating tag was added to gene: PYGM.
Phenotypes for gene: PYGM were changed from McArdle disease, 232600 to McArdle disease OMIM:232600
Publications for gene PYGM were changed from to 21880526
Source NHS GMS was added to PYGM.
Mode of inheritance for gene PYGM was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes McArdle disease, 232600 for gene: PYGM
Source Expert Review Green was added to PYGM. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: PYGM was added gene: PYGM was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: PYGM was set to