GBE1

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

22 panels

Panel Reviews Mode of inheritance Details
22 panels

Green GBE1 in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.4

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties
  • Glycogen storage disease IV, 232500
  • Polyglucosan body disease, adult form, 263570
  • Glycogen Storage Disease Type IV
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease

Red GBE1 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.9

review Not set
Sources
  • Emory Genetics Laboratory

Green GBE1 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.17

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

Green GBE1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Glycogen storage disease IV, 232500
  • GSD4
  • Fetal hydrops (in perinatal or congenital neuromuscular forms)
  • Andersen disease

Green GBE1 in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.48
Latest signed off version: v1.34 (4 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Glycogen storage disease IV 232500

    Green GBE1 in Neuromuscular disorders


    Version 5.215
    Latest signed off version: v5.43 (4 Mar 2020)

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

    Green GBE1 in White matter disorders and cerebral calcification - narrow panel


    Version 1.189
    Latest signed off version: v1.12 (2 Mar 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Polyglucosan body disease, adult form
    • Polyglucosan Body Disease (PGBD)

    Amber GBE1 in Cholestasis


    Version 1.84
    Latest signed off version: v1.21 (20 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Amber
    Phenotypes
    • Glycogen storage disease IV, OMIM:232500
    Tags
    • for-review

    Green GBE1 in Glycogen storage disease


    Version 1.6
    Latest signed off version: v1.2 (18 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Glycogen storage disease IV 232500

    Green GBE1 in White matter disorders - adult onset


    Version 1.25
    Latest signed off version: v1.6 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Polyglucosan body disease, adult form, 263570

    Green GBE1 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.129

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polyglucosan Body Disease (PGBD)
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Polyglucosan body disease, adult form
    Tags
    • adult-onset

    Green GBE1 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.113
    Latest signed off version: v3.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Glycogen storage disease IV 232500

    Red GBE1 in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.20
    Latest signed off version: v2.4 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review
    Phenotypes
    • Glycogen storage disease IV, 232500

    No list GBE1 in Hereditary spastic paraplegia - adult onset


    Version 1.25
    Latest signed off version: v1.12 (15 Oct 2020)

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

    No list GBE1 in Neurodegenerative disorders - adult onset


    Version 2.176
    Latest signed off version: v2.31 (8 Oct 2020)

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

    Green GBE1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.470

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Glycogen storage disease type IV, Andersen (Glycogen storage disorders)
    • failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties
    • Glycogen storage disease IV, 232500
    • Polyglucosan body disease, adult form, 263570
    • Glycogen Storage Disease Type IV
    • Glycogen Storage Disorders- Liver
    • Glycogen Storage Disorders- Muscle
    • Glycogen Storage Disease

    Green GBE1 in Inborn errors of metabolism


    Version 2.155
    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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Glycogen storage disease IV, 232500
    • Glycogen Storage Disease
    • Glycogen Storage Disorders- Liver
    • Glycogen storage disease type IV, Andersen (Glycogen storage disorders)
    • Glycogen Storage Disorders- Muscle
    • 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
    • Polyglucosan body disease, adult form, 263570

    Green GBE1 in Fetal anomalies


    Version 1.700
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Glycogen storage disease IV
    • Polyglucosan body disease, adult form
    • Fetal akinesia deformation sequence

    Red GBE1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1214
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Victorian Clinical Genetics Services

    Red GBE1 in Cardiomyopathies - including childhood onset


    Version 1.51
    Latest signed off version: v1.4 (19 Feb 2020)

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

    Red GBE1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.137
    Latest signed off version: v1.58 (6 Oct 2020)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green GBE1 in Severe Paediatric Disorders


    Version 1.81

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polyglucosan body disease, adult form, 263570
    • Glycogen storage disease IV, 232500