NR2E3:Ensemblv90

nuclear receptor subfamily 2 group E member 3
OMIM: 604485, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green NR2E3 in Mendeliome Version 1.3802	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 37 - MIM#611131 Enhanced S-cone syndrome - MIM#268100 Goldmann-Favre syndrome - MONDO#0100289 retinal dystrophy
Green NR2E3 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 0.225 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes retinitis pigmentosa 37 MONDO:0012625
Green NR2E3 in Retinitis pigmentosa_Autosomal Dominant Level 2: Ophthalmological disorders Version 0.82 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes retinitis pigmentosa MONDO:0019200
Green NR2E3 in Vitreoretinopathy Level 2: Ophthalmological disorders Version 1.9 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Enhanced S-cone syndrome, MIM# 268100
Red NR2E3 in Prepair 1000+ Level 2: Screening Version 2.15	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Enhanced S-cone syndrome (MIM#268100) Retinitis pigmentosa 37 (MIM#611131)
Green NR2E3 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes retinitis pigmentosa 37 MONDO:0012625
Green NR2E3 in Retinitis pigmentosa_Autosomal Dominant Level 2: Ophthalmological disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Phenotypes retinitis pigmentosa MONDO:0019200
Green NR2E3 in Vitreoretinopathy Level 2: Ophthalmological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Enhanced S-cone syndrome, MIM# 268100
Red NR2E3 in Prepair 1000+ Level 2: Screening Version 3.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Expert Review Red Phenotypes Enhanced S-cone syndrome (MIM#268100) Retinitis pigmentosa 37 (MIM#611131)