1. Genes and Genomic Entities
  2. GLB1

GLB1

galactosidase beta 1
OMIM: 611458, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels
Green GLB1 in Mucopolysaccharideosis, Gaucher, Fabry

Level 3: Lysosomal storage disorders
Level 2: Metabolic disorders
Version 1.2

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 1.21

review Not set
Sources
  • Emory Genetics Laboratory
Green GLB1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

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


Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

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


    Version 3.3
    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


    Version 3.24
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 4.7
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert list
    Phenotypes
    • syndromic HCM
    Green GLB1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.56
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    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 1.617

    		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 - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    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


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    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


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • GM1-gangliosidosis, type III, 230650
    Amber GLB1 in Paediatric or syndromic cardiomyopathy


    Version 3.46
    Latest signed off version: v3.0 (22 Mar 2023)

    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


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • GM1-gangliosidosis, type III, 230650
    Green GLB1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • GM1-gangliosidosis, type I, 230500
    • GM1-gangliosidosis, type III, 230650
    • Mucopolysaccharidosis type IVB (Morquio), 253010
    • GM1-gangliosidosis, type II, 230600
    Green GLB1 in GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS