PRKAG2

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

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green PRKAG2 in Glycogen Storage Diseases


Level 2: Metabolic disorders
Version 1.2

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycogen storage disease of heart, lethal congenital, MIM# 261740

    Green PRKAG2 in Hypertrophic cardiomyopathy_HCM


    Level 2: Cardiovascular disorders
    Version 0.178

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, hypertrophic 6, MIM# 600858

    Green PRKAG2 in Incidentalome


    Version 0.301

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, hypertrophic 6, MIM# 600858
    • Glycogen storage disease of heart, lethal congenital, MIM# 261740
    Tags
    • cardiac

    Green PRKAG2 in Additional findings_Adult


    Level 2: Screening
    Version 0.166

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Cardiomyopathy, hypertrophic 6, MIM# 600858

    Green PRKAG2 in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.6

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Wolff-Parkinson-White syndrome 194200
    • Cardiomyopathy, hypertrophic 6 600858
    • Glycogen storage disease of heart, lethal congenital 261740

    Green PRKAG2 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • London South GLHSouth West GLH
    Phenotypes
    • Cardiomyopathy, familial hypertrophic 6,
    • Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
    • syndromic HCM

    Red PRKAG2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    • BabySeq Category B gene
    • BabySeq Category A gene
    Phenotypes
    • Glycogen storage disease of heart, lethal congenital
    • Wolff-Parkinson-White syndrome
    • Cardiomyopathy, hypertrophic

    Green PRKAG2 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green PRKAG2 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Glycogen storage disease of heart, lethal congenital, OMIM:261740
    • Lethal congenital glycogen storage disease of heart, MONDO:0009867

    Red PRKAG2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • BabySeq Category A gene
    • Expert Review Red
    • BabySeq Category B gene
    Phenotypes
    • Cardiomyopathy, hypertrophic
    • Wolff-Parkinson-White syndrome
    • Glycogen storage disease of heart, lethal congenital

    Green PRKAG2 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, hypertrophic 6, MIM# 600858