COQ5

coenzyme Q5, methyltransferase
OMIM: 616359, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red COQ5 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary 9, MIM#619028
  • Cerebellar ataxia
  • encephalopathy
  • generalized tonic-clonic seizures
  • intellectual disability

Red COQ5 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.970

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    • Expert list
    Phenotypes
    • Coenzyme Q10 deficiency, primary 9, MIM#619028
    • Cerebellar ataxia
    • encephalopathy
    • generalized tonic-clonic seizures
    • intellectual disability

    Red COQ5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Coenzyme Q10 deficiency, primary 9, MIM#619028
    • Cerebellar ataxia
    • encephalopathy
    • generalized tonic-clonic seizures
    • intellectual disability

    Red COQ5 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Coenzyme Q10 deficiency, primary 9, MIM#619028
    • Cerebellar ataxia
    • encephalopathy
    • generalized tonic-clonic seizures
    • intellectual disability