UQCRC2

ubiquinol-cytochrome c reductase core protein 2
OMIM: 191329, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green UQCRC2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160

Green UQCRC2 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 5, MIM# 615160

    Red UQCRC2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 5
    • OMIM #615160

    Red UQCRC2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)

    Red UQCRC2 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)