CAPN5:Ensemblv90

calpain 5
OMIM: 602537, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CAPN5 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Vitreoretinopathy, neovascular inflammatory, MIM# 193235

Green CAPN5 in Vitreoretinopathy


Level 2: Ophthalmological disorders
Version 1.9

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Vitreoretinopathy, neovascular inflammatory, MIM# 193235

    Green CAPN5 in Vitreoretinopathy


    Level 2: Ophthalmological disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Vitreoretinopathy, neovascular inflammatory, MIM# 193235