Ketotic hypoglycaemia

Gene: PRKAG2

Red List (low 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

Alexander Broomfield (Central Manchester Foundation Trust)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted from amber to red due to expert review.
Created: 8 Jun 2016, 11:46 a.m.
Comment on list classification: Is associated with glycogen storage disease of heart, lethal congenital in OMIM, and hypoglycaemia suggested within the patient descriptions.
Created: 20 Apr 2016, 2:01 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Wolff-Parkinson-White syndrome, 194200
  • Cardiomyopathy, familial hypertrophic 6, 600858
  • Glycogen storage disease of heart, lethal congenital, 261740
  • Glycogen Storage Disease of Heart, Lethal Congenital
  • Glycogen Storage Disorders- Muscle
OMIM
602743
Clinvar variants
Variants in PRKAG2
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PRKAG2 was added to Ketotic hypoglycaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory