1. Genes and Genomic Entities
  2. UQCC2

UQCC2

ubiquinol-cytochrome c reductase complex assembly factor 2
OMIM: 614461, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green UQCC2 in Mitochondrial disorder with complex III deficiency


Level 2: Mitochondrial
Version 2.7
Latest signed off version: v2.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
Green UQCC2 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 Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
    Green UQCC2 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
    • NHS GMS
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
    Amber UQCC2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
    Red UQCC2 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
    Green UQCC2 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 Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert list
    • Expert
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
    Amber UQCC2 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.96
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824