Genomics England

GBE1

1,4-alpha-glucan branching enzyme 1

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease IV, OMIM:232500
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 3.21	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyglucosan body disease, adult form, OMIM:263570
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 3.23	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyglucosan body disease, adult form, OMIM:263570
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 4.41	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyglucosan body disease, adult form, OMIM:263570, adult polyglucosan body disease, MONDO:0009897
Green in Arthrogryposis R-numbers: R83 Signed-off version 5.21	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease IV, OMIM:232500
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GBE1-associated Glycogen storage disease IV, OMIM:232500
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease IV, OMIM:232500, Fetal akinesia deformation sequence
Green in Glycogen storage disease R-numbers: R274 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease IV, OMIM:232500
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease IV, OMIM:232500, Polyglucosan body disease, adult form, OMIM:263570
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.39	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease IV, OMIM:232500
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.24	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyglucosan body disease, adult form, OMIM:263570, General Leukodystrophy & Mitochondrial Leukoencephalopathy