Rhabdomyolysis and Metabolic Myopathy
Gene: PRKAG2EnsemblGeneIds (GRCh38): ENSG00000106617
EnsemblGeneIds (GRCh37): ENSG00000106617
OMIM: 602743, Gene2Phenotype
PRKAG2 is in 11 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Skeletal myopathy with exercise intolerance as a common feature is reported as a feature in at least 3 families.Created: 12 Apr 2023, 9:27 a.m. | Last Modified: 12 Apr 2023, 9:27 a.m.
Panel Version: 0.103
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, hypertrophic 6 MIM#600858; Glycogen storage disease of heart, lethal congenital MIM#261740; Wolff-Parkinson-White syndrome MIM#194200
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Wolff-Parkinson-White syndrome 194200
- Cardiomyopathy, hypertrophic 6 600858
- Glycogen storage disease of heart, lethal congenital 261740
- OMIM
- 602743
- Clinvar variants
- Variants in PRKAG2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hypertrophic cardiomyopathy_HCM
- Rhabdomyolysis and Metabolic Myopathy
- Incidentalome
- Additional findings_Adult
- Glycogen Storage Diseases
- Fetal anomalies
- Additional findings_Paediatric
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
History Filter Activity
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: PRKAG2 were set to
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prkag2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: prkag2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prkag2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PRKAG2 was added gene: PRKAG2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAG2 were set to Wolff-Parkinson-White syndrome 194200; Cardiomyopathy, hypertrophic 6 600858; Glycogen storage disease of heart, lethal congenital 261740