GLB1

galactosidase beta 1
OMIM: 611458, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 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 1.8

review Not set
Sources
  • Emory Genetics Laboratory

Green GLB1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.22

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 Lysosomal storage disorder


Version 1.3
Signed off v.1.2 on 18 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • North London GLH
Phenotypes
  • Mucopolysaccharidosis type IVB (Morquio) 253010
  • GM1-gangliosidosis, type III 230650
  • GM1-gangliosidosis, type I 230500
  • GM1-gangliosidosis, type II 230600

Green GLB1 in White matter disorders - adult onset


Version 1.4
Signed off v.1.2 on 27 Feb 2020

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 - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.4
Signed off v.2.2 on 2 Mar 2020

Component of the following Super Panels:

  • Sudden cardiac death
  • 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 2.9
    Signed off v.2.2 on 13 Feb 2020

    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 1.416

    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 Inborn errors of metabolism


    Version 2.12
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.73
    Signed off v.1.2 on 17 Feb 2020

    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 2.8
    Signed off v.2.2 on 13 Feb 2020

    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 Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.102
    Signed off v.2.2 on 13 Feb 2020

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.135
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 movement disorder


    Version 1.5
    Signed off v.1.2 on 2 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • GM1-gangliosidosis, type III, 230650

    Green GLB1 in Cardiomyopathies - including childhood onset


    Version 1.5
    Signed off v.1.4 on 19 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • MetBioNet
    • Expert Review Green
    • MetBioNet
    • South West GLH
    • Expert Review Green
    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 or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    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 1.6

    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