PanelApp
  1. Genes and Genomic Entities
  2. PYGM

PYGM

glycogen phosphorylase, muscle associated
OMIM: 608455, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green PYGM in Glycogen Storage Diseases


Level 2: Metabolic disorders
Version 1.3

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • McArdle disease, MIM# 232600
    • Disorder of glycogen metabolism MONDO:0002412, PYGM-related, AD

    Green PYGM in Mendeliome


    Version 1.3512

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • McArdle disease, MIM# 232600
    • Disorder of glycogen metabolism MONDO:0002412, PYGM-related, AD

    Green PYGM in Additional findings_Adult


    Level 2: Screening
    Version 1.130

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • McArdle disease, MIM# 232600

    Amber PYGM in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • McArdle disease (MIM#232600)

    Green PYGM in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycogen storage disease V McArdle disease 232600 AR

    Green PYGM in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • McCardle disease MIM# 608455

    Green PYGM in Hyperammonaemia


    Level 2: Metabolic disorders
    Version 0.10

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • McArdle disease 232600

    Red PYGM in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Glycogen storage disease V, MONDO:0009293
    • McArdle disease, OMIM:232600

    Red PYGM in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • McArdle disease (MIM#232600)

    Red PYGM in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • McArdle disease, MIM# 232600
    • Glycogen storage disease, autosomal dominant