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Retinal disorders

Gene: NRL

Green List (high evidence)

NRL (neural retina leucine zipper)
EnsemblGeneIds (GRCh38): ENSG00000129535
EnsemblGeneIds (GRCh37): ENSG00000129535
OMIM: 162080, Gene2Phenotype
NRL is in 3 panels

2 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:05 a.m.
UKGTN source: Retinal degeneration, autosomal recessive, clumped pigment type (autosomal recessive); Retinitis pigmentosa 27 (autosomal dominant).
Created: 26 Apr 2016, 12:43 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Retinal degeneration, autosomal recessive, clumped pigment type (AR)
  • Retinitis pigmentosa 27 (AD)
  • Eye Disorders
  • Retinitis Pigmentosa, Dominant
  • Retinitis pigmentosa
  • Retinitis pigmentosa 27, 613750
OMIM
162080
Clinvar variants
Variants in NRL
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NRL. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

NRL was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NRL was created by ellenmcdonagh