EYS:Ensemblv90

eyes shut homolog (Drosophila)
OMIM: 612424, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green EYS in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 25 MONDO:0011272

Green EYS in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 0.225

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 25, 602772

    Red EYS in Prepair 1000+


    Level 2: Screening
    Version 2.15

    3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Retinitis pigmentosa 25 (MIM#602772)

    Green EYS in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Retinitis pigmentosa 25, 602772

    Red EYS in Prepair 1000+


    Level 2: Screening
    Version 3.0

    3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • Retinitis pigmentosa 25 (MIM#602772)