ARSA

arylsulfatase A
OMIM: 607574, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Red ARSA in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Metachromatic leukodystrophy 250100

Red ARSA in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.85

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia

Green ARSA in White matter disorders and cerebral calcification - narrow panel


Version 1.32
Signed off v.1.12 on 2 Mar 2020

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Metachromatic leukodystrophy, 250100
    • Arylsulfatase A Deficiency

    Green ARSA in Ataxia and cerebellar anomalies - narrow panel


    Version 2.39
    Signed off v.2.23 on 8 Oct 2020

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Metachromatic leukodystrophy (#250100)

    Green ARSA 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
    • Metachromatic leukodystrophy 250100

    Green ARSA in White matter disorders - adult onset


    Version 1.7
    Signed off v.1.6 on 15 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Metachromatic leukodystrophy, 250100

    Green ARSA in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.207

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Metachromatic leukodystrophy (#250100)

    Green ARSA in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Metachromatic leukodystrophy (Arylsulfatase A Deficiency) 250100

    Green ARSA in Neurodegenerative disorders - adult onset


    Version 2.38
    Signed off v.2.31 on 8 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Metachromatic leukodystrophy (#250100)
    • Dystonia

    Green ARSA in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.440

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • UKGTN
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Metachromatic leukodystrophy 250100

    Green ARSA in Inborn errors of metabolism


    Version 2.50
    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
    • Metachromatic leukodystrophy

    Green ARSA in Fetal anomalies


    Version 1.185
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ARYLSULFATASE A DEFICIENCY

    Green ARSA in DDG2P


    Version 2.18
    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
    • ARYLSULFATASE A DEFICIENCY 250100

    Green ARSA in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.383

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Metachromatic leukodystrophy, 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 Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.740
    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
    Phenotypes
    • ARYLSULFATASE A DEFICIENCY

    Green ARSA in Hereditary ataxia - adult onset


    Version 2.20
    Signed off v.2.13 on 6 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Metachromatic leukodystrophy (#250100)
    • Metachromatic Leukodystrophy, 250100

    Amber ARSA in Adult onset movement disorder


    Version 1.16
    Signed off v.1.14 on 15 Oct 2020

    review Not set
    Sources
    • Expert Review Amber
    • NHS GMS
    • South West GLH
    Phenotypes
    • Metachromatic leukodystrophy, 250100
    • Dystonia

    Amber ARSA in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • 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
    • Metachromatic leukodystrophy, 250100

    Green ARSA in Childhood onset dystonia or chorea or related movement disorder


    Version 1.74
    Signed off v.1.58 on 6 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Metachromatic leukodystrophy, 250100

    Green ARSA in Severe Paediatric Disorders


    Version 1.43

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Metachromatic leukodystrophy, 250100