UQCC3

ubiquinol-cytochrome c reductase complex assembly factor 3
OMIM: 616097, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber UQCC3 in Mitochondrial disorder with complex III deficiency


Version 2.5
Latest signed off version: v2.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex III deficiency, nuclear type 9, 616111
Amber UQCC3 in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

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
    Phenotypes
    • ?Mitochondrial complex III deficiency, nuclear type, 616111
    • Isolated complex III deficiency
    Amber UQCC3 in Possible mitochondrial disorder - nuclear genes


    Version 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • ?Mitochondrial complex III deficiency, nuclear type 9, 616111
    Amber UQCC3 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Isolated complex III deficiency
    • ?Mitochondrial complex III deficiency, nuclear type, 616111
    Tags
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