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  2. Congenital nystagmus
  3. NYX
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Congenital nystagmus

Gene: NYX

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 25 Oct 2021, 6:40 a.m. | Last Modified: 25 Oct 2021, 6:40 a.m.
Panel Version: 0.9467

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, 6:40 a.m.
Last Modified: 25 Oct 2021, 6:40 a.m.
Panel version: Imported from Mendeliome panel version 0.9467

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

~50-70% of individuals reported to have nystagmus (GeneReviews), though age of onset not specified.
Created: 25 Oct 2021, 4:30 a.m. | Last Modified: 25 Oct 2021, 4:30 a.m.
Panel Version: 0.44

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Oct 2021, 4:30 a.m.
Last Modified: 25 Oct 2021, 4:30 a.m.
Panel version: 0.44

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
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

6 Oct 2021, 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 Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital 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