ARSB

arylsulfatase B
OMIM: 611542, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green ARSB 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
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200
  • Mucopolysaccharidosis, Type VI
  • Mucopolysaccharidosis Type VI
  • MUCOPOLYSACCHARIDOSIS TYPE 6

Red ARSB in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.12

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200

Green ARSB in Hydrocephalus


Version 2.116
Latest signed off version: v2.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy), OMIM:253200

Green ARSB in Lysosomal storage disorder


Version 1.74
Latest signed off version: v1.2 (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 VI (Maroteaux-Lamy) OMIM:253200
  • mucopolysaccharidosis type 6 MONDO:0009661

Green ARSB in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.119
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200
    • Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200

    Green ARSB in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.486

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease)
    • Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200
    • Mucopolysaccharidosis, Type VI
    • Mucopolysaccharidosis Type VI
    • MUCOPOLYSACCHARIDOSIS TYPE 6

    Green ARSB in Inborn errors of metabolism


    Version 2.180
    Latest signed off version: v2.3 (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 6
    • Mucopolysaccharidosis, Type VI
    • Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200
    • Mucopolysaccharidosis Type VI
    • MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease)

    Green ARSB in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MUCOPOLYSACCHARIDOSIS TYPE 6

    Green ARSB in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.53
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mucopolysaccharidosis VI (MPS6) 253200

    Green ARSB in DDG2P


    Version 2.44
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MUCOPOLYSACCHARIDOSIS TYPE 6 253200

    Red ARSB in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.185
    Latest signed off version: v2.5 (13 Feb 2020)

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • hearing loss

    Green ARSB in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1287
    Latest signed off version: v3.2 (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
    Phenotypes
    • MUCOPOLYSACCHARIDOSIS TYPE 6 (MPS6)

    Green ARSB in Cardiomyopathies - including childhood onset


    Version 1.54
    Latest signed off version: v1.4 (19 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • MetBioNet
    • Expert Review Green
    • MetBioNet
    • Expert Review Green
    Phenotypes
    • Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200
    • MUCOPOLYSACCHARIDOSIS TYPE 6
    • Mucopolysaccharidosis, Type VI
    • MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease)
    • Mucopolysaccharidosis Type VI

    Red ARSB in Childhood onset dystonia or chorea or related movement disorder


    Version 1.152
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green ARSB in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200