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  3. CYP4V2
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Corneal abnormalities

Gene: CYP4V2

Red List (low evidence)
CYP4V2 (cytochrome P450 family 4 subfamily V member 2)
EnsemblGeneIds (GRCh38): ENSG00000145476
EnsemblGeneIds (GRCh37): ENSG00000145476
OMIM: 608614, Gene2Phenotype
CYP4V2 is in 4 panels

2 reviews

Chris Campbell (GEL)

Feedback from Manchester Centre for Genomic Medicine; not enough evidence to go in corneal abnormalities panel.
Created: 3 Mar 2017, 9:50 a.m.
Created: 3 Mar 2017, 9:50 a.m.

Panel version: 0.197

Ellen McDonagh (Genomics England Curator)

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.
Created: 22 Feb 2017, 10:30 a.m.

Panel version: 0.139

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Bietti crystalline corneoretinal dystrophy 210370
OMIM
608614
Clinvar variants
Variants in CYP4V2
Penetrance
Complete
Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 1

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

22 Feb 2017, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CYP4V2 were set to Bietti crystalline corneoretinal dystrophy 210370

22 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CYP4V2 was added to Corneal abnormalitiespanel. Sources: Illumina TruGenome Clinical Sequencing Services