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Prepair 1000+

Gene: NYX

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

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene disease association. Mouse model present. Congenital stationary night blindness - clinically and genetically heterogeneous group of nonprogressive retinal disorders that can be characterized by impaired night vision, decreased visual acuity, nystagmus, myopia, and strabismus. Patients often presenting in infancy or early childhood. Broad spectrum of potential phenotypes. Report affected individuals are male, with heterozygous females generally unaffected.
Functional studies also present, with animal model (zebrafish and mouse).
Created: 11 Sep 2024, 5:17 a.m. | Last Modified: 11 Sep 2024, 5:17 a.m.
Panel Version: 1.287

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

Phenotypes
Night blindness, congenital stationary (complete), 1A, X-linked MIM310500

Publications

Created: 11 Sep 2024, 5:17 a.m.
Last Modified: 11 Sep 2024, 5:17 a.m.
Panel version: 1.287

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500
OMIM
300278
Clinvar variants
Variants in NYX
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NYX was added gene: NYX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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, MIM #310500