Rhabdomyolysis and metabolic muscle disorders
Gene: PYGMEnsemblGeneIds (GRCh38): ENSG00000068976
EnsemblGeneIds (GRCh37): ENSG00000068976
OMIM: 608455, Gene2Phenotype
PYGM is in 16 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Over 20 variants reportedCreated: 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
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Ketotic hypoglycaemia
- Hyperammonaemia
- Skeletal muscle channelopathy
- Retinal disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Arthrogryposis
- Glycogen storage disease V
- Glycogen storage disease
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for PYGM were set to 25929793; 16786513; 8316268
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Panel promoted to V1 4th January 2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Model of inheritance for gene PYGM was set to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene PYGM were set to Glycogen storage disease V McArdle disease 232600 AR
Added New Source
Ellen McDonagh (Genomics England Curator)PYGM was added to Rhabdomyolysis and metabolic muscle disorders panel. Sources: Emory Genetics Laboratory