Retinal disordersGene: CYP2R1
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
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
Source NHS GMS was added to CYP2R1.
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for CYP2R1 were set to Vogt-Koyanagi-Harada disease; Rickets due to defect in vitamin D 25-hydroxylation 600081
CYP2R1 was created by sleigh
CYP2R1 was added to Posterior segment abnormalitiespanel. Sources: Literature