CYP4V2

cytochrome P450 family 4 subfamily V member 2
OMIM: 608614, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red CYP4V2 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Red CYP4V2 in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.14

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Bietti crystalline corneoretinal dystrophy 210370
Green CYP4V2 in Retinal disorders


Level 2: Ophthalmology
Version 8.86
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Bietti crystalline corneoretinal dystrophy, 210370
  • Eye Disorders
  • Retinitis pigmentosa
Red CYP4V2 in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Bietti crystalline corneoretinal dystrophy, 210370
  • Eye Disorders