Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: NR2E3
Biallelic variants in this gene cause enhanced S-cone syndrome and AR retinitis pigmentosa.
Enhanced S cone syndrome is a retinopathy with affected individuals presenting with increased sensitivity to blue light.
Multiple unrelated individuals reported with retinal dystrophy/pigmentosa.
p.Arg311Gln - most commonly reported pathogenic variant associated with enhanced S-cone syndrome.Created: 19 May 2025, 11:23 p.m. | Last Modified: 19 May 2025, 11:23 p.m.
Panel Version: 0.159
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Enhanced S-cone syndrome MONDO:0100288; retinitis pigmentosa 37 MONDO:0012625
Publications
Gene: nr2e3 has been classified as Green List (High Evidence).
Phenotypes for gene: NR2E3 were changed from Enhanced S - cone syndrome (AR); Retinitis pigmentosa 37 (AD and AR) to retinitis pigmentosa 37 MONDO:0012625
Publications for gene: NR2E3 were set to
Mode of inheritance for gene: NR2E3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
gene: NR2E3 was added gene: NR2E3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NR2E3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: NR2E3 were set to Enhanced S - cone syndrome (AR); Retinitis pigmentosa 37 (AD and AR)