PanelApp (staging)
  1. Genes and Genomic Entities
  2. C1QTNF5

C1QTNF5

C1q and TNF related 5
OMIM: 608752, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green C1QTNF5 in Mendeliome


Version 1.2302

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinal degeneration, late-onset, autosomal dominant MIM#605670

Green C1QTNF5 in Retinitis pigmentosa_Autosomal Dominant


Level 2: Ophthalmological disorders
Version 0.57

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinal degeneration, late-onset, autosomal dominant MIM#605670

    Green C1QTNF5 in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 0.45

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Retinal degeneration, late-onset, autosomal dominant, 605670
    • Retinitis pigmentosa