GBE1

Green GBE1 in Ketotic hypoglycaemia

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

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

Sources

• Emory Genetics Laboratory

Green GBE1 in Neonatal cholestasis

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

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

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:

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)

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:

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)

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)

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)

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

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)

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:

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)

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)

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

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:

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)

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:

Sources

• Victorian Clinical Genetics Services

Red GBE1 in Cardiomyopathies - including childhood onset

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

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)

Sources

• Expert Review Red
• London North GLH

Green GBE1 in Severe Paediatric Disorders

Version 1.81

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Polyglucosan body disease, adult form, 263570
• Glycogen storage disease IV, 232500