Congenital Stationary Night Blindness
Gene: NYX

NYX (nyctalopin)
EnsemblGeneIds (GRCh38): ENSG00000188937
EnsemblGeneIds (GRCh37): ENSG00000188937
OMIM: 300278, Gene2Phenotype
NYX is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 25 Oct 2021, 6:42 a.m. | Last Modified: 25 Oct 2021, 6:42 a.m.

Panel Version: 0.13

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Night blindness, congenital stationary (complete), 1A, X-linked MIM#310500

Publications

Created: 25 Oct 2021, 6:42 a.m.
Last Modified: 25 Oct 2021, 6:42 a.m.
Panel version: 0.13

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Night blindness, congenital stationary (complete), 1A, X-linked, 310500

OMIM

300278

Clinvar variants

Variants in NYX

Penetrance

None

Publications

Panels with this gene

History Filter Activity

25 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NYX were set to

24 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NYX was added gene: NYX was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, 310500

Congenital Stationary Night Blindness Gene: NYX