ARSB

arylsulfatase B
OMIM: 611542, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green ARSB in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mucopolysaccharidosis VI (MPS6, MIM# 253200

Green ARSB in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.123

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

Green ARSB in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.140

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
  • treatable
  • clinical trial

Green ARSB in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200
  • MONDO:0009661
Tags
  • treatable
  • clinical trial

Green ARSB 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
    • Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200
    • MONDO:0009661
    Tags
    • treatable
    • clinical trial

    Green ARSB in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200
    • MONDO:0009661
    Tags
    • treatable
    • clinical trial

    Green ARSB in Skeletal dysplasia

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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200
    • MONDO:0009661
    Tags
    • treatable
    • clinical trial

    Green ARSB 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 VI (Maroteaux-Lamy), 253200 (3)

    Green ARSB in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

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


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Mucopolysaccharidosis type VI (Maroteaux-Lamy)

    Green ARSB in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200
    • MONDO:0009661

    Green ARSB in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)

    Green ARSB in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Mucopolysaccharidosis VI (MPS6, MIM# 253200
    Tags
    • treatable
    • clinical trial
    • metabolic

    Green ARSB in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)