Ketotic hypoglycaemia
Gene: PRKAG2
PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000106617
EnsemblGeneIds (GRCh37): ENSG00000106617
OMIM: 602743, Gene2Phenotype
PRKAG2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000106617
EnsemblGeneIds (GRCh37): ENSG00000106617
OMIM: 602743, Gene2Phenotype
PRKAG2 is in 14 panels
2 reviews
Alexander Broomfield (Central Manchester Foundation Trust)
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
-
- Acute rhabdomyolysis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Hereditary neuropathy or pain disorder
- Hereditary neuropathy
- Rhabdomyolysis and metabolic muscle disorders
- Progressive cardiac conduction disease
- Hypertrophic cardiomyopathy
- Ketotic hypoglycaemia
- Dilated Cardiomyopathy and conduction defects
- Childhood onset dystonia, chorea or related movement disorder
- Glycogen storage disease
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