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Retinal disorders

Gene: NYX

Green List (high evidence)
NYX (nyctalopin)
EnsemblGeneIds (GRCh38): ENSG00000188937
EnsemblGeneIds (GRCh37): ENSG00000188937
OMIM: 300278, Gene2Phenotype
NYX is in 6 panels

2 reviews

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

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

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.
Rated green by Andrew Webster (Moorfields Eye Hospital) on the Rod Dysfunction Syndrome gene panel: "Causes ON-bipolar dysfunction (complete CSNB). Does not cause a phenotype in heterozygous females. Simlar in phenotype to TRPM1, GRM6, GPR179, LRIT3" Mode of inheritance:
X-LINKED: hemizygous mutation in males, biallelic mutations in females. Phenotypes: complete congenital stationary night blindness. Publications: 26234941; 23289809; 22735794; 18617546; 16670814; 15761389; 12552565; 11252742; 11062472; 11062471. Review made: Panel Version: 0
Oct. 19, 2015, 1:34 p.m.
Created: 26 Apr 2016, 12:35 p.m.
Created: 26 Apr 2016, 12:35 p.m.

Panel version: 0.161

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital Stationary Night Blindness
  • Congenital Stationary Night Blindness, X-linked
  • Night blindness, congenital stationary (complete), 1A, X-linked, 310500
OMIM
300278
Clinvar variants
Variants in NYX
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 NYX. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for NYX was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

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: 0

Created

Ellen McDonagh (Genomics England Curator)

NYX was created by ellenmcdonagh

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

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