Rhabdomyolysis and metabolic muscle disorders
Gene: PRKAG2EnsemblGeneIds (GRCh38): ENSG00000106617
EnsemblGeneIds (GRCh37): ENSG00000106617
OMIM: 602743, Gene2Phenotype
PRKAG2 is in 14 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Although rhabdomyolysis is not a prominent feature, PRKAG2 was included on the basis that it causes a metabolic myopathy which is within the scope of this panel and therefore the Green rating will be maintained at this time.Created: 17 Jan 2022, 2:51 p.m. | Last Modified: 17 Jan 2022, 2:51 p.m.
Panel Version: 1.75
Zornitza Stark (Australian Genomics)
Primarily affects cardiac rather than skeletal muscle. Cannot find reports of rhabdomyolysis.Created: 7 Oct 2020, 10:50 p.m. | Last Modified: 7 Oct 2020, 10:50 p.m.
Panel Version: 1.42
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, hypertrophic 6 600858; Glycogen storage disease of heart, lethal congenital 261740; Wolff-Parkinson-White syndrome 194200
Sarah Leigh (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, hypertrophic 6 600858; Glycogen storage disease of heart, lethal congenital 261740; Wolff-Parkinson-White syndrome 194200
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- UKGTN
- Literature
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cardiomyopathy, hypertrophic 6 600858
- Glycogen storage disease of heart, lethal congenital 261740
- Wolff-Parkinson-White syndrome 194200
- OMIM
- 602743
- Clinvar variants
- Variants in PRKAG2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Hereditary neuropathy
- Progressive cardiac conduction disease
- Hypertrophic cardiomyopathy
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Glycogen storage disease
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Panel promoted to V1 4th January 2017
Added New Source
Sarah Leigh (Genomics England Curator)PRKAG2 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN
Created
Sarah Leigh (Genomics England Curator)PRKAG2 was created by sleigh