PanelApp (stage)
  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 Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.3

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • GM1-gangliosidosis, type III , MIM#230650
    • Parkinsonism

    Green GLB1 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.313

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GLB1 in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.140

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GLB1 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • GM1-gangliosidosis, type I MIM#230500
    • GM1-gangliosidosis, type II MIM# 230600
    • GM1-gangliosidosis, type III MIM#230650
    • Mucopolysaccharidosis type IVB (Morquio) MIM#253010

    Green GLB1 in Lysosomal Storage Disorder


    Level 2: Metabolic conditions
    Version 1.11

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • GM1-gangliosidosis, type I, MIM# 230500
    • GM1-gangliosidosis, type II, MIM# 230600
    • GM1-gangliosidosis, type III, MIM# 230650
    • Mucopolysaccharidosis type IVB (Morquio), MIM# 253010

    Green GLB1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • GM1-gangliosidosis, type I MIM#230500
    • GM1-gangliosidosis, type II MIM# 230600

    Green GLB1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GLB1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Green GLB1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • GM1-gangliosidosis, type II 230600
    • GM1-gangliosidosis, type III 230650
    • Mucopolysaccharidosis type IVB (Morquio) 253010
    • GM1-gangliosidosis, type I 230500

    Green GLB1 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.235

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Infantile GM1 gangliosidosis

    Green GLB1 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.308

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • GM1-gangliosidosis, type I, MIM# 230500
    • GM1-gangliosidosis, type II, MIM# 230600

    Green GLB1 in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.140

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • GM1-gangliosidosis, type III, MIM#230650
    • white matter abnormality

    Green GLB1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mucopolysaccharidosis type IVB (Morquio), 253010 (3)

    Green GLB1 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • MetBioNet
    • South West GLH
    • NHS GMS
    Phenotypes
    • Mucopolysaccharidosis Type IVB
    • MUCOPOLYSACCHARIDOSIS TYPE 4B
    • MPS IVB, Morquio B disease (MPS IV, Morquio disease)
    • Mucopolysaccharidosis, Type IV
    • GM1-gangliosidosis, type III, 230650
    • GM1-gangliosidosis (Sphingolipidoses)
    • GM1-gangliosidosis, type II, 230600
    • syndromic HCM
    • GM1-gangliosidosis, type I, 230500
    • Mucopolysaccharidosis type IVB (Morquio), 253010

    Green GLB1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Gangliosidosis GM1

    Green GLB1 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • GM1-gangliosidosis, type I MIM#230500
    • GM1-gangliosidosis, type II MIM# 230600
    • GM1-gangliosidosis, type III MIM#230650
    • Mucopolysaccharidosis type IVB (Morquio) MIM#253010

    Green GLB1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mucopolysaccharidosis type IVB (Morquio), 253010 (3)

    Red GLB1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • GM1-gangliosidosis, type I MIM#230500
    • GM1-gangliosidosis, type II MIM# 230600
    • GM1-gangliosidosis, type III MIM#230650
    • Mucopolysaccharidosis type IVB (Morquio) MIM#253010

    Green GLB1 in Prepair 500+


    Level 2: Screening
    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mucopolysaccharidosis type IVB (Morquio), 253010 (3)