Genomics England

GLB1

galactosidase beta 1

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 3.23	BIALLELIC, autosomal or pseudoautosomal	Phenotypes white matter abnormality
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GM1-gangliosidosis, type III, 230650
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GM1-GANGLIOSIDOSIS TYPE 1 230500, MUCOPOLYSACCHARIDOSIS TYPE 4B 253010, GM1-GANGLIOSIDOSIS TYPE 2 230600, GM1-GANGLIOSIDOSIS TYPE 3 230650
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GM1-gangliosidosis, type II, 230600, seizures
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GM1-GANGLIOSIDOSIS TYPE 1, GM1-GANGLIOSIDOSIS TYPE 2, GM1-GANGLIOSIDOSIS TYPE 3, MUCOPOLYSACCHARIDOSIS TYPE 4B
Green in GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB R-numbers: R288 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GM1-gangliosidosis, type I, 230500GM1-gangliosidosis, type II, 230600GM1-gangliosidosis, type III, 230650Mucopolysaccharidosis type IVB (Morquio), 253010, MUCOPOLYSACCHARIDOSIS TYPE 4B (MPS4B)
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 MUCOPOLYSACCHARIDOSIS TYPE 4B, MPS IVB, Morquio B disease (MPS IV, Morquio disease), Mucopolysaccharidosis type IVB (Morquio), 253010, GM1-gangliosidosis (Sphingolipidoses), GM1-gangliosidosis, type II, 230600, GM1-gangliosidosis, type III, 230650, Mucopolysaccharidosis, Type IV, Mucopolysaccharidosis Type IVB, GM1-gangliosidosis, type I, 230500
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mucopolysaccharidosis type IVB (Morquio) OMIM:253010, mucopolysaccharidosis type 4B MONDO:0009660, GM1-gangliosidosis, type III OMIM:230650, GM1 gangliosidosis type 3 MONDO:0009262, GM1-gangliosidosis, type I OMIM:230500, GM1 gangliosidosis type 1 MONDO:0009260, GM1-gangliosidosis, type II OMIM:230600, GM1 gangliosidosis type 2 MONDO:0009261
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.31	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GM1-gangliosidosis, type II 230600, GM1-gangliosidosis, type I 230500, GM1-gangliosidosis, type III 230650, Mucopolysaccharidosis type IVB (Morquio) 253010
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 GM1-gangliosidosis, type I, OMIM:230500, GM1-gangliosidosis, type II, OMIM:230600