PRKAG2

protein kinase AMP-activated non-catalytic subunit gamma 2
OMIM: 602743, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Red PRKAG2 in Genomic imprinting Version 0.138	review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature
Red PRKAG2 in Ketotic hypoglycaemia Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.7	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen 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
Green PRKAG2 in Rhabdomyolysis and metabolic muscle disorders Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 1.78 Latest signed off version: v1.34 (4 Mar 2020) Component of the following Super Panels: Hypotonic infant Neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Literature Phenotypes Cardiomyopathy, hypertrophic 6 600858 Glycogen storage disease of heart, lethal congenital 261740 Wolff-Parkinson-White syndrome 194200
Green PRKAG2 in Neuromuscular disorders Version 5.352 Latest signed off version: v5.43 (4 Mar 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Cardiomyopathy, hypertrophic 6, 600858 Glycogen storage disease of heart, lethal congenital, 261740 Wolff-Parkinson-White syndrome, 194200
Green PRKAG2 in Glycogen storage disease Version 1.8 Latest signed off version: v1.2 (18 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Phenotypes Glycogen storage disease of heart, lethal congenital 261740
Green PRKAG2 in Progressive cardiac conduction disease Version 1.37 Latest signed off version: v1.5 (20 Aug 2020) Component of the following Super Panels: Sudden cardiac death	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH Expert list Phenotypes Wolff-Parkinson-White syndrome, OMIM:194200
Green PRKAG2 in Hypertrophic cardiomyopathy - teen and adult Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 2.41 Latest signed off version: v2.11 (15 Oct 2020) Component of the following Super Panels: Sudden cardiac death	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Wolff-Parkinson-White syndrome (194200) syndromic HCM Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Cardiomyopathy, familial hypertrophic 6, Cardiomyopathy, familial hypertrophic 6 (600858) Glycogen storage disease of heart, lethal congenital (261740)
Red PRKAG2 in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.78	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Oxford Medical Genetics Laboratory
Green PRKAG2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.542	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Literature Phenotypes Cardiomyopathy, hypertrophic 6 600858 Glycogen storage disease of heart, lethal congenital 261740 Wolff-Parkinson-White syndrome 194200
Green PRKAG2 in Inborn errors of metabolism Version 2.263 Latest signed off version: v2.3 (17 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	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
Green PRKAG2 in Fetal anomalies Version 1.900 Latest signed off version: v1.92 (21 Aug 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Cardiomyopathy, hypertrophic 6, OMIM:600858 Hypertrophic cardiomyopathy 6, MONDO:0010946 Glycogen storage disease of heart, lethal congenital, OMIM:261740 Lethal congenital glycogen storage disease of heart, MONDO:0009867
Red PRKAG2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.454	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Cardiomyopathy
Green PRKAG2 in Cardiomyopathies - including childhood onset Version 1.76 Latest signed off version: v1.4 (19 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green London South GLHSouth West GLH Phenotypes Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Cardiomyopathy, familial hypertrophic 6, syndromic HCM
Red PRKAG2 in Hereditary neuropathy NOT PMP22 copy number Version 1.103 Latest signed off version: v1.36 (5 Aug 2021)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy
Red PRKAG2 in Childhood onset dystonia or chorea or related movement disorder Version 1.241 Latest signed off version: v1.137 (5 Aug 2021)	review	Not set	Sources Expert Review Red London North GLH
Green PRKAG2 in Severe Paediatric Disorders Version 1.127	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Glycogen storage disease of heart, lethal congenital, 261740 Cardiomyopathy, hypertrophic 6, 600858 Wolff-Parkinson-White syndrome, 194200
Amber PRKAG2 in Acute rhabdomyolysis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 0.10	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Phenotypes Cardiomyopathy, hypertrophic 6, OMIM:600858 Glycogen storage disease of heart, lethal congenital, OMIM:261740