Rhabdomyolysis and metabolic muscle disorders

Gene: PRKAG2

Green List (high evidence)

PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000106617
EnsemblGeneIds (GRCh37): ENSG00000106617
OMIM: 602743, Gene2Phenotype
PRKAG2 is in 16 panels

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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

History Filter Activity

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

1 Dec 2016, Gel status: 4

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

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PRKAG2 was created by sleigh