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 1.39

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 1.9

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 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.222
Latest signed off version: v2.195 (5 Aug 2021)

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


Version 1.83
Latest signed off version: v1.3 (4 Mar 2020)

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