Rhabdomyolysis and metabolic muscle disorders

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

2 reviews

Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease V

Publications

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Over 20 variants reported
Created: 5 Dec 2016, 11:54 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Glycogen storage disease V McArdle disease 232600 AR
OMIM
608455
Clinvar variants
Variants in PYGM
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Jul 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PYGM were set to 25929793; 16786513; 8316268

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

5 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Dec 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

PYGM was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene PYGM was set to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene PYGM were set to Glycogen storage disease V McArdle disease 232600 AR

27 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PYGM was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Emory Genetics Laboratory