UQCC2

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green UQCC2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824

Green UQCC2 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green

    Amber UQCC2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 7
    • OMIM #615824

    Amber UQCC2 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

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

    Red UQCC2 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
    • MC3DN7

    Green UQCC2 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824