PanelApp
  1. Genes and Genomic Entities
  2. COQ7

COQ7

coenzyme Q7, hydroxylase
OMIM: 601683, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber COQ7 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.159

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 8, MIM#616733

    Green COQ7 in Mendeliome


    Version 1.3512

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 8 MIM#616733
    • Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402

    Green COQ7 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
    • Expert Review Green
    • Expert list
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 8 MIM#616733

    Red COQ7 in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.15

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Hereditary spastic paraplegia, COQ7-related (MONDO#0019064)

    Green COQ7 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.40

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402

    Green COQ7 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 8 - MIM#616733

    Amber COQ7 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BeginNGS
    Phenotypes
    • Coenzyme Q10 deficiency, primary, 8, MIM# 616733
    Tags
    • for review