NYX

nyctalopin
OMIM: 300278, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green NYX in Mendeliome


Version 1.1902

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Night blindness, congenital stationary (complete), 1A, X-linked MIM#310500

Green NYX in Congenital Stationary Night Blindness


Level 2: Ophthalmological disorders
Version 0.23

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review 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

    Green NYX in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review 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

    Green NYX in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.21

    review 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

    Green NYX in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review 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