Genomics England

GBE1

1,4-alpha-glucan branching enzyme 1

Panel	Mode of inheritance	Details
Filter panels12 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 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyglucosan body disease, adult form, OMIM:263570
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyglucosan body disease, adult form, OMIM:263570
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 5.4	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 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease IV, OMIM:232500
Green in Congenital muscular dystrophy and congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R432 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes arthrogryposis multiplex congenita, foetal akinesias, fetal akinesia deformation sequence, severe congenital myopathy, multiple pterygium syndrome
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GBE1-associated Glycogen storage disease IV, OMIM:232500
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	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 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 5.6	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 4.4	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 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyglucosan body disease, adult form, OMIM:263570, General Leukodystrophy & Mitochondrial Leukoencephalopathy