GLB1

galactosidase beta 1
OMIM: 611458, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green GLB1 in Mucopolysaccharideosis, Gaucher, Fabry Level 3: Lysosomal storage disorders Level 2: Metabolic disorders Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes GM1-gangliosidosis, type I, 230500 GM1-gangliosidosis, type II, 230600 GM1-gangliosidosis, type III, 230650 Mucopolysaccharidosis type IVB (Morquio), 253010 Mucopolysaccharidosis, Type IV Mucopolysaccharidosis Type IVB MUCOPOLYSACCHARIDOSIS TYPE 4B
Red GLB1 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Green GLB1 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 Phenotypes GM1-gangliosidosis, type I, 230500 GM1-gangliosidosis, type II, 230600 GM1-gangliosidosis, type III, 230650 Mucopolysaccharidosis type IVB (Morquio), 253010 Mucopolysaccharidosis, Type IV Mucopolysaccharidosis Type IVB MUCOPOLYSACCHARIDOSIS TYPE 4B
Green GLB1 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.24 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 NHS GMS Expert list Phenotypes GM1-gangliosidosis, type I, OMIM:230500 GM1-gangliosidosis, type II, OMIM:230600
Green GLB1 in Lysosomal storage disorder Level 2: Metabolic Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green North London GLH 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 GLB1 in Adult onset leukodystrophy Level 2: Neurology Version 6.10 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 white matter abnormality
Red GLB1 in Hypertrophic cardiomyopathy Level 2: Cardiology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert list Phenotypes syndromic HCM
Green GLB1 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.46 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes GM1-gangliosidosis, type II 230600 GM1-gangliosidosis, type I 230500 GM1-gangliosidosis, type III 230650 Mucopolysaccharidosis type IVB (Morquio) 253010
Green GLB1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes MPS IVB, Morquio B disease (MPS IV, Morquio disease) GM1-gangliosidosis (Sphingolipidoses) GM1-gangliosidosis, type I, 230500 GM1-gangliosidosis, type II, 230600 GM1-gangliosidosis, type III, 230650 Mucopolysaccharidosis type IVB (Morquio), 253010 Mucopolysaccharidosis, Type IV Mucopolysaccharidosis Type IVB MUCOPOLYSACCHARIDOSIS TYPE 4B
Green GLB1 in Likely inborn error of metabolism Level 2: Metabolic Version 8.113 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 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 GLB1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.194 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes GM1-GANGLIOSIDOSIS TYPE 1 GM1-GANGLIOSIDOSIS TYPE 2 GM1-GANGLIOSIDOSIS TYPE 3 MUCOPOLYSACCHARIDOSIS TYPE 4B
Green GLB1 in DDG2P Version 6.447 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 GM1-GANGLIOSIDOSIS TYPE 1 230500 MUCOPOLYSACCHARIDOSIS TYPE 4B 253010 GM1-GANGLIOSIDOSIS TYPE 2 230600 GM1-GANGLIOSIDOSIS TYPE 3 230650
Green GLB1 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.192 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes GM1-gangliosidosis, type II, 230600 seizures
Green GLB1 in Intellectual disability Level 2: Developmental disorders Version 9.397 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes GM1-gangliosidosis, type I, 230500GM1-gangliosidosis, type II, 230600GM1-gangliosidosis, type III, 230650Mucopolysaccharidosis type IVB (Morquio), 253010 MUCOPOLYSACCHARIDOSIS TYPE 4B (MPS4B)
Amber GLB1 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.5 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes GM1-gangliosidosis, type III, 230650
Amber GLB1 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.102 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 Expert Review Amber NHS GMS South West GLH MetBioNet MetBioNet South West GLH Phenotypes GM1-gangliosidosis, type I, 230500 Mucopolysaccharidosis type IVB (Morquio), 253010 GM1-gangliosidosis (Sphingolipidoses) syndromic HCM Mucopolysaccharidosis Type IVB GM1-gangliosidosis, type II, 230600 MUCOPOLYSACCHARIDOSIS TYPE 4B MPS IVB, Morquio B disease (MPS IV, Morquio disease) GM1-gangliosidosis, type III, 230650 Mucopolysaccharidosis, Type IV
Green GLB1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.25 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes GM1-gangliosidosis, type III, 230650
Green GLB1 in GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB Level 2: Metabolic Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes GM1-gangliosidosis, type I, OMIM:230500 GM1-gangliosidosis, type II, OMIM:230600 GM1-gangliosidosis, type III, OMIM:230650 Mucopolysaccharidosis type IVB (Morquio), OMIM:253010 GM1 gangliosidosis, MONDO:0018149 mucopolysaccharidosis type 4B, MONDO:0009660