PanelApp
  1. Genes and Genomic Entities
  2. COQ8B

COQ8B

coenzyme Q8B
OMIM: 615567, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green COQ8B in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrotic syndrome, type 9 MIM#615573
  • Retinitis pigmentosa MONDO:0019200

Green COQ8B in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.229

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Nephrotic syndrome, type 9, MIM#615573

    Green COQ8B in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.970

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green

    Green COQ8B in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.156

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Retinitis pigmentosa MONDO:0019200

    Green COQ8B in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Nephrotic syndrome, type 9, 615573 (3)

    Green COQ8B in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Nephrotic syndrome, type 9, 615573 (3)

    Red COQ8B in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BeginNGS
    Phenotypes
    • Nephrotic syndrome, type 9, MIM# 615573
    Tags
    • for review