PanelApp (stage)
  1. Genes and Genomic Entities
  2. GBE1

GBE1

1,4-alpha-glucan branching enzyme 1
OMIM: 607839, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green GBE1 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Polyglucosan body disease, adult form MIM#263570

    Green GBE1 in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.411

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GBE1 in Cholestasis


    Level 2: Gastroenterological disorders
    Version 0.240

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycogen storage disease IV, MIM# 232500

    Green GBE1 in Glycogen Storage Diseases


    Level 2: Metabolic disorders
    Version 1.2

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycogen storage disease IV, MIM# 232500

    Green GBE1 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.313

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GBE1 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycogen storage disease IV, MIM# 232500
    • Polyglucosan body disease, adult form MIM#263570

    Green GBE1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red GBE1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Glycogen storage disease IV, MIM#232500

    Green GBE1 in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.140

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Polyglucosan body disease, adult form, 263570

    Green GBE1 in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.11

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polyglucosan body disease, adult form MIM#263570

    Green GBE1 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.14

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Polyglucosan body disease, adult form MIM#263570
    • Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI

    Green GBE1 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glycogen storage disease IV, MIM# 232500
    • Polyglucosan body disease, adult form MIM#263570

    Green GBE1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Glycogen storage disease IV, 232500 (3)

    Red GBE1 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • MetBioNet
    • South West GLH
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Glycogen Storage Disorders- Liver
    • Glycogen Storage Disorders- Muscle
    • Glycogen storage disease type IV, Andersen (Glycogen storage disorders)
    • Glycogen storage disease IV, 232500
    • hypotonia, exercise intolerance, polyglucosan bodies in affected tissues
    • Glycogen Storage Disease Type IV
    • failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties
    • DCM
    • Polyglucosan body disease, adult form, 263570
    • Glycogen storage disease type IV (brancher enzyme deficiency), neuromuscular form
    • Hypertrophic-hypocontractile cardiomyopathy
    • Glycogen Storage Disease

    Red GBE1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    • BabySeq Category A gene
    Phenotypes
    • Polyglucosan body disease, adult form
    • Glycogen storage disease IV

    Green GBE1 in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Glycogen storage disease IV, MIM# 232500

    Green GBE1 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Fetal akinesia deformation sequence
    • Glycogen storage disease IV, OMIM:232500

    Green GBE1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Glycogen storage disease IV, 232500 (3)

    Red GBE1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • BabySeq Category A gene
    • Expert Review Red
    Phenotypes
    • Polyglucosan body disease, adult form
    • Glycogen storage disease IV

    Green GBE1 in Prepair 500+


    Level 2: Screening
    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Glycogen storage disease IV, 232500 (3)