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Retinal disorders

Gene: CYP2R1

Amber List (moderate evidence)

CYP2R1 (cytochrome P450 family 2 subfamily R member 1)
EnsemblGeneIds (GRCh38): ENSG00000186104
EnsemblGeneIds (GRCh37): ENSG00000186104
OMIM: 608713, Gene2Phenotype
CYP2R1 is in 4 panels

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Red List (low evidence)

I don't think there is evidence for inclusion
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

rs782503732 reported in 17 apparently unrelated Saudi Arabian patients (MAF T=0.000008). Not added as a green gene because although PMID reports occurrence in 17 unrelated Saudi Arabian families, no data to disprove relatedness is provided
Created: 4 May 2017, 9:52 a.m.
Comment on list classification: Two variants reported, one in 17/39 apparently unrelated Vogt-Koyanagi-Harada disease patients
Created: 4 May 2017, 9:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vogt-Koyanagi-Harada disease

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Vogt-Koyanagi-Harada disease
  • Rickets due to defect in vitamin D 25-hydroxylation 600081
OMIM
608713
Clinvar variants
Variants in CYP2R1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 2

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CYP2R1.

4 May 2017, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

4 May 2017, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CYP2R1 were set to Vogt-Koyanagi-Harada disease; Rickets due to defect in vitamin D 25-hydroxylation 600081

4 May 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CYP2R1 was created by sleigh

4 May 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

CYP2R1 was added to Posterior segment abnormalitiespanel. Sources: Literature