Rhabdomyolysis and Metabolic Myopathy

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 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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

History Filter Activity

12 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: PRKAG2 were set to

12 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: prkag2 has been classified as Green List (High Evidence).

7 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prkag2 has been classified as Red List (Low Evidence).

12 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: prkag2 has been classified as Red List (Low Evidence).

14 Jan 2020, Gel status: 3

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