PanelApp
  1. Genes and Genomic Entities
  2. UQCRB

UQCRB

ubiquinol-cytochrome c reductase binding protein
OMIM: 191330, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green UQCRB in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158

Green UQCRB in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.1085

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews 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 3, MIM# 615158

    Green UQCRB in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green UQCRB in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red UQCRB in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 3
    • OMIM #615158

    Amber UQCRB in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 3, 615158

    Red UQCRB in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Mitochondrial complex III deficiency

    Red UQCRB in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 3, MIM #615158

    Red UQCRB in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Mitochondrial complex III deficiency