3billion
back to listBack to List

NR2E3

nuclear receptor subfamily 2 group E member 3

HCNC Approved Symbol
NR2E3 (HGNC:7974)
Genomic Coordinates
15:71,810,554 - 71,818,253 (15q23)
Synonyms
PNR, rd7, RP37
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

32Patients

In total, 32 patients were diagnosed with a variant in the NR2E3 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Retinitis pigmentosa
 20 (62.5%)
Retinal disease
 6 (18.8%)
Abnormal retinal morphology
 
4 (12.5%)
Ird
 
4 (12.5%)
Visual impairment
 
4 (12.5%)
NR2E3 - Gene browser | 3billion