Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: NR2E3

Green List (high evidence)

NR2E3 (nuclear receptor subfamily 2 group E member 3)
EnsemblGeneIds (GRCh38): ENSG00000278570
EnsemblGeneIds (GRCh37): ENSG00000031544
OMIM: 604485, Gene2Phenotype
NR2E3 is in 5 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • retinitis pigmentosa 37 MONDO:0012625
OMIM
604485
Clinvar variants
Variants in NR2E3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jun 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nr2e3 has been classified as Green List (High Evidence).

9 Jun 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NR2E3 were changed from Enhanced S - cone syndrome (AR); Retinitis pigmentosa 37 (AD and AR) to retinitis pigmentosa 37 MONDO:0012625

9 Jun 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NR2E3 were set to

9 Jun 2025, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NR2E3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

23 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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)