CERKL

ceramide kinase like
OMIM: 608381, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CERKL in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 26, MIM# 608380

Green CERKL in Retinitis pigmentosa_Autosomal Recessive/X-linked


Level 2: Ophthalmological disorders
Version 0.147

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 26, MIM# 608380

    Green CERKL in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 0.45

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Retinitis pigmentosa 26, 608380

    Green CERKL in Cone-rod Dystrophy


    Level 2: Ophthalmological disorders
    Version 0.54

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Cone-rod dystrophy

    Amber CERKL in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Retinitis pigmentosa 26 (MIM#608380)