PRKAG2

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

17 panels

Panel Reviews Mode of inheritance Details
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