CYP4V2:Ensemblv90

cytochrome P450 family 4 subfamily V member 2
OMIM: 608614, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CYP4V2 in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.13

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bietti crystalline corneoretinal dystrophy, MIM# 210370

Green CYP4V2 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bietti crystalline corneoretinal dystrophy, MIM# 210370

Green CYP4V2 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 0.225

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • 0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa
    • Bietti crystalline corneoretinal dystrophy, 210370

    Green CYP4V2 in Corneal Dystrophy


    Level 2: Ophthalmological disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Bietti crystalline corneoretinal dystrophy, MIM# 210370

    Green CYP4V2 in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 1.0

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Retinitis pigmentosa
    • Bietti crystalline corneoretinal dystrophy, 210370