SQOR

sulfide quinone oxidoreductase
OMIM: 617658, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green SQOR in Mitochondrial disorder with complex IV deficiency


Level 2: Mitochondrial
Version 4.14
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Sulfide:quinone oxidoreductase deficiency, OMIM:619221
Amber SQOR 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
    • Expert Review Amber
    • Literature
    Phenotypes
    • Sulfide:quinone oxidoreductase deficiency, OMIM:619221
    Tags
    • Q2_25_ promote_green
    Green SQOR in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Leigh syndrome
    Amber SQOR in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Sulfide:quinone oxidoreductase deficiency, OMIM:619221
    Tags
    • Q2_25_ promote_green