Rhabdomyolysis and Metabolic Myopathy

Gene: PYGM

Green List (high evidence)

PYGM (glycogen phosphorylase, muscle associated)
EnsemblGeneIds (GRCh38): ENSG00000068976
EnsemblGeneIds (GRCh37): ENSG00000068976
OMIM: 608455, Gene2Phenotype
PYGM is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene-disease association for bi-allelic variants is well established. Report of a large family (13 affecteds) with heterozygous missense variant and adult-onset of muscle weakness.
Created: 4 Jun 2020, 10:31 a.m. | Last Modified: 4 Jun 2020, 10:31 a.m.
Panel Version: 0.3018

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
McArdle disease, MIM# 232600; Glycogen storage disease, autosomal dominant

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease V McArdle disease 232600 AR
OMIM
608455
Clinvar variants
Variants in PYGM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

15 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: PYGM were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PYGM was added gene: PYGM was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGM were set to Glycogen storage disease V McArdle disease 232600 AR