SOD1

superoxide dismutase 1
OMIM: 147450, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green SOD1 in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 9.1
Latest signed off version: v9.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598
Tags
  • treatable
Green SOD1 in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 9.1
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Amyotrophic lateral sclerosis 1, OMIM:105400
    • Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598
    Tags
    • treatable
    Green SOD1 in Amyotrophic lateral sclerosis/motor neuron disease

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.74

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert
    Phenotypes
    • Amyotrophic lateral sclerosis 1, OMIM:105400
    Red SOD1 in Monogenic hearing loss


    Level 2: Audiology
    Version 6.10
    Latest signed off version: v6.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    Green SOD1 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598
    Tags
    • treatable
    Amber SOD1 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.1
    Latest signed off version: v8.0 (6 May 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Charcot-Marie-Tooth disease, MONDO:0015626
    • Amyotrophic lateral sclerosis 1, OMIM:105400
    Tags
    • Q1_26_promote_green
    • treatable