Genomics England

GAA

glucosidase alpha, acid

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease II, OMIM:232300
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GLYCOGEN STORAGE DISEASE TYPE II 232300
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GLYCOGEN STORAGE DISEASE TYPE II
Green in Glycogen storage disease R-numbers: R274 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease II 232300
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 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease II, 232300
Green in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R82 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease II 232300
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease II OMIM:232300, glycogen storage disease II MONDO:0009290
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hypotonia, muscle weakness, progressive respiratory failure, syndromic HCM, HCM, mixed, Glycogen storage disease II, 232300, Glycogen storage disease type II (Pompe disease)
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease II 232300