GBE1

Panel	Reviews	Mode of inheritance	Details
Filter panels 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 1.8	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 1.23	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 1.43 Signed off v.1.34 on 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 5.92 Signed off v.5.43 on 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 1.32 Signed off v.1.12 on 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 1.78 Signed off v.1.21 on 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 1.4 Signed off v.1.2 on 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 1.7 Signed off v.1.6 on 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 1.87	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 3.52 Signed off v.3.2 on 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 2.15 Signed off v.2.4 on 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 1.16 Signed off v.1.12 on 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 2.38 Signed off v.2.31 on 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 1.440	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 2.50 Signed off v.2.3 on 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 1.185 Signed off v.1.92 on 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 3.740 Signed off v.3.2 on 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 1.18 Signed off v.1.4 on 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 1.74 Signed off v.1.58 on 6 Oct 2020	review	Not set	Sources Expert Review Red London North GLH
Green GBE1 in Severe Paediatric Disorders Version 1.43	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

GBE1

22 panels

Green GBE1 in Ketotic hypoglycaemia

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Phenotypes

Red GBE1 in Hyperammonaemia

Sources

Green GBE1 in Neonatal cholestasis

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Phenotypes

Green GBE1 in Fetal hydrops

Sources

Phenotypes

Green GBE1 in Rhabdomyolysis and metabolic muscle disorders

Sources

Phenotypes

Green GBE1 in Neuromuscular disorders

Sources

Phenotypes

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

Sources

Phenotypes

Amber GBE1 in Cholestasis

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Phenotypes

Tags

Green GBE1 in Glycogen storage disease

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Phenotypes

Green GBE1 in White matter disorders - adult onset

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Phenotypes

Green GBE1 in Inherited white matter disorders

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Phenotypes

Tags

Green GBE1 in Arthrogryposis

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Phenotypes

Red GBE1 in Limb girdle muscular dystrophy

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Phenotypes

No list GBE1 in Hereditary spastic paraplegia - adult onset

Sources

Phenotypes

No list GBE1 in Neurodegenerative disorders - adult onset

Sources

Phenotypes

Green GBE1 in Undiagnosed metabolic disorders

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Phenotypes

Green GBE1 in Inborn errors of metabolism

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Phenotypes

Green GBE1 in Fetal anomalies

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Phenotypes

Red GBE1 in Intellectual disability

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Red GBE1 in Cardiomyopathies - including childhood onset

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Phenotypes

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

Sources

Green GBE1 in Severe Paediatric Disorders

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Phenotypes