Corneal abnormalitiesGene: CYP4V2
Feedback from Manchester Centre for Genomic Medicine; not enough evidence to go in corneal abnormalities panel.
Created: 3 Mar 2017, 9:50 a.m.
Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group, and patients would present with Bietti crystalline corneoretinal dystrophy - thin corneas would not be a presenting feature.
Created: 22 Feb 2017, 10:30 a.m.
09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
Phenotypes for CYP4V2 were set to Bietti crystalline corneoretinal dystrophy 210370
This gene has been classified as Red List (Low Evidence).
CYP4V2 was added to Corneal abnormalitiespanel. Sources: Illumina TruGenome Clinical Sequencing Services