SUOX

sulfite oxidase
OMIM: 606887, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Red SUOX in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Red SUOX in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.40

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Red SUOX in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.11
Latest signed off version: v8.0 (30 Apr 2025)

review Unknown
Sources
  • Expert Review Red
Phenotypes
  • Dystonia
Green SUOX in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Sulfite oxidase deficiency 272300
Green SUOX in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Sulfite oxidase deficiency
    Green SUOX in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Sulfite oxidase deficiency, OMIM:272300
    Green SUOX in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    Phenotypes
    • Sulfite oxidase deficiency
    Green SUOX in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Sulfite oxidase deficiency, 272300
    Red SUOX in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.3
    Latest signed off version: v5.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Sulfite oxidase deficiency, 272300
    • Dystonia
    Green SUOX in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • South West GLH
    • London North GLH
    Phenotypes
    • Sulfite oxidase deficiency, 272300