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  3. NRL
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Structural eye disease

Gene: NRL

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 27; 613750

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 27, 613750

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 27, OMIM:613750
OMIM
162080
Clinvar variants
Variants in NRL
Penetrance
None
Panels with this gene

History Filter Activity

23 Nov 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NRL were changed from Retinitis pigmentosa 27, 613750; Eye Disorders to Retinitis pigmentosa 27, OMIM:613750

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NRL. Mode of inheritance for gene NRL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 27, 613750 for gene: NRL

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: NRL was added gene: NRL was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: NRL was set to Phenotypes for gene: NRL were set to Eye Disorders