Ketotic hypoglycaemia
Gene: PYGM
PYGM (glycogen phosphorylase, muscle associated)
EnsemblGeneIds (GRCh38): ENSG00000068976
EnsemblGeneIds (GRCh37): ENSG00000068976
OMIM: 608455, Gene2Phenotype
PYGM is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000068976
EnsemblGeneIds (GRCh37): ENSG00000068976
OMIM: 608455, Gene2Phenotype
PYGM is in 16 panels
2 reviews
Alexander Broomfield (Central Manchester Foundation Trust)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted from amber to red due to expert review.Created: 8 Jun 2016, 11:46 a.m.
Comment on list classification: Associated with McArdle disease.Created: 6 Apr 2016, 9:37 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Glycogen Storage Disease Type V
- Glycogen Storage Disease V (McArdle Disease)
- Glycogen Storage Disorders- Muscle
- Glycogen Storage Disease
- Glycogen Storage Disease V
- OMIM
- 608455
- Clinvar variants
- Variants in PYGM
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Hyperammonaemia
- Skeletal muscle channelopathy
- Glycogen storage disease V
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Rhabdomyolysis and metabolic muscle disorders
- Acute rhabdomyolysis
- Fetal anomalies
- Retinal disorders
- Glycogen storage disease
- Skeletal Muscle Channelopathies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Paroxysmal central nervous system disorders
- Arthrogryposis
History Filter Activity
8 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
8 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
6 Apr 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
19 Oct 2015, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)PYGM was added to Ketotic hypoglycaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN