PanelApp (stage)
  1. Genes and Genomic Entities
  2. ARSA

ARSA

arylsulfatase A
OMIM: 607574, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green ARSA in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Metachromatic leukodystrophy, MIM# 250100, adult-onset

    Amber ARSA in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.356

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Metachromatic leukodystrophy, MIM#250100

    Red ARSA in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.313

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Metachromatic leukodystrophy, MIM# 250100

    Green ARSA in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Metachromatic leukodystrophy, MIM#250100
    Tags
    • treatable
    • clinical trial

    Green ARSA 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
    • Metachromatic leukodystrophy, MIM# 250100
    • MONDO:0009591
    Tags
    • treatable
    • clinical trial

    Green ARSA 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
    • Literature
    • Expert Review
    Phenotypes
    • Metachromatic leukodystrophy - # 250100
    • Arylsulfatase A deficiency

    Green ARSA in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Metachromatic leukodystrophy, MIM# 250100
    Tags
    • treatable
    • clinical trial

    Green ARSA 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
    • Metachromatic leukodystrophy, MIM# 250100
    Tags
    • treatable
    • clinical trial

    Green ARSA in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Metachromatic Leukodystrophy, 250100
    • Metachromatic leukodystrophy (#250100)
    Tags
    • treatable
    • clinical trial

    Green ARSA 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
    • Expert list
    Phenotypes
    • Metachromatic leukodystrophy, MIM#250100
    Tags
    • treatable
    • clinical trial

    Green ARSA 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
    • Metachromatic leukodystrophy, MIM# 250100
    Tags
    • treatable
    • clinical trial

    Green ARSA 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
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Metachromatic leukodystrophy, 250100
    Tags
    • treatable
    • clinical trial

    Green ARSA in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.14

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Metachromatic leukodystrophy, MIM# 250100
    • Severe late infantile form with mental retardation and severe course. Regression before 30 months
    • adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy

    Green ARSA 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
    • Metachromatic leukodystrophy, 250100 (3)

    Green ARSA in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

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

    Red ARSA in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Metachromatic leukodystrophy, MIM# 250100

    Green ARSA in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Metachromatic leukodystrophy, 250100 (3)

    Green ARSA in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Metachromatic leukodystrophy, MIM# 250100
    Tags
    • treatable
    • clinical trial
    • metabolic

    Green ARSA in Prepair 500+


    Level 2: Screening
    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Metachromatic leukodystrophy, 250100 (3)