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Inborn errors of metabolism

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 13 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 9 variants reported in Cardiomyopathy, hypertrophic 6 600858, at least 2 variants in 4 cases of Glycogen storage disease of heart, lethal congenital 261740 and at least 1 variant in a three generation family with Wolff-Parkinson-White syndrome 194200
Created: 17 Jan 2017, 4:51 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rhabdomyolysis and metabolic muscle disorders

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
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
None
Publications
  • 194200
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PRKAG2. Source London North GLH was added to PRKAG2.

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, 600858; Glycogen storage disease of heart, lethal congenital, 261740; Wolff-Parkinson-White syndrome, 194200

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

gene: PRKAG2 was added gene: PRKAG2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAG2 were set to 194200