GBE1

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

23 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 23 panels
Green GBE1 in Ketotic hypoglycaemia Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.10	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 Glycogen storage disease IV, OMIM:232500 Polyglucosan body disease, adult form, OMIM:263570
Red GBE1 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Green GBE1 in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease IV, OMIM:232500
Green GBE1 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Glycogen storage disease IV, OMIM:232500 Fetal hydrops (in perinatal or congenital neuromuscular forms)
Green GBE1 in Rhabdomyolysis and metabolic muscle disorders Level 2: Neurology Version 5.14 Latest signed off version: v5.4 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare 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, OMIM:232500
Green GBE1 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.11 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Polyglucosan body disease, adult form, OMIM:263570 General Leukodystrophy & Mitochondrial Leukoencephalopathy
Amber GBE1 in Cholestasis Level 2: Gastrohepatology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert list Phenotypes Glycogen storage disease IV, OMIM:232500
Green GBE1 in Glycogen storage disease Level 2: Metabolic Version 2.6 Latest signed off version: v2.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH London North GLH Expert Review Green Phenotypes Glycogen storage disease IV, OMIM:232500
Green GBE1 in Adult onset leukodystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Polyglucosan body disease, adult form, OMIM:263570
Green GBE1 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polyglucosan body disease, adult form, OMIM:263570 General Leukodystrophy & Mitochondrial Leukoencephalopathy Tags adult-onset
Green GBE1 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Glycogen storage disease IV, OMIM:232500
Green GBE1 in Congenital myopathy Level 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Literature Phenotypes arthrogryposis multiplex congenita foetal akinesias fetal akinesia deformation sequence severe congenital myopathy multiple pterygium syndrome
Red GBE1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare 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, OMIM:232500
Green GBE1 in Adult onset hereditary spastic paraplegia Level 2: Neurology Version 6.7 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polyglucosan body disease, adult form, OMIM:263570
Green GBE1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Polyglucosan body disease, adult form, OMIM:263570 adult polyglucosan body disease, MONDO:0009897
Green GBE1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycogen storage disease IV, OMIM:232500 Polyglucosan body disease, adult form, OMIM:263570
Green GBE1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glycogen storage disease IV, OMIM:232500 Polyglucosan body disease, adult form, OMIM:263570
Green GBE1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes Glycogen storage disease IV, OMIM:232500 Fetal akinesia deformation sequence
Green GBE1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GBE1-associated Glycogen storage disease IV, OMIM:232500
Red GBE1 in Intellectual disability Level 2: Developmental disorders Version 9.281 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Not set	Sources Victorian Clinical Genetics Services
Red GBE1 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red MetBioNet MetBioNet South West GLH Phenotypes Glycogen storage disease IV, OMIM:232500
Red GBE1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green GBE1 in Acute rhabdomyolysis Level 2: Neurology Version 2.7 Latest signed off version: v2.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Glycogen storage disease IV, OMIM:232500

GBE1

23 panels

Green GBE1 in Ketotic hypoglycaemia

Sources

Phenotypes

Red GBE1 in Hyperammonaemia

Sources

Green GBE1 in Neonatal cholestasis

Sources

Phenotypes

Green GBE1 in Fetal hydrops

Sources

Phenotypes

Green GBE1 in Rhabdomyolysis and metabolic muscle disorders

Sources

Phenotypes

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

Sources

Phenotypes

Amber GBE1 in Cholestasis

Sources

Phenotypes

Green GBE1 in Glycogen storage disease

Sources

Phenotypes

Green GBE1 in Adult onset leukodystrophy

Sources

Phenotypes

Green GBE1 in Inherited white matter disorders

Sources

Phenotypes

Tags

Green GBE1 in Arthrogryposis

Sources

Phenotypes

Green GBE1 in Congenital myopathy

Sources

Phenotypes

Red GBE1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Sources

Phenotypes

Green GBE1 in Adult onset hereditary spastic paraplegia

Sources

Phenotypes

Green GBE1 in Adult onset neurodegenerative disorder

Sources

Phenotypes

Green GBE1 in Undiagnosed metabolic disorders

Sources

Phenotypes

Green GBE1 in Likely inborn error of metabolism

Sources

Phenotypes

Green GBE1 in Fetal anomalies

Sources

Phenotypes

Green GBE1 in DDG2P

Sources

Phenotypes

Red GBE1 in Intellectual disability

Sources

Red GBE1 in Paediatric or syndromic cardiomyopathy

Sources

Phenotypes

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

Sources

Green GBE1 in Acute rhabdomyolysis

Sources

Phenotypes