OPN1LW

opsin 1, long wave sensitive
OMIM: 300822, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber OPN1LW in Mendeliome


Version 1.1902

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Blue cone monochromacy - MIM#303700
  • Colourblindness, protan - MIM#303900
Tags
  • SV/CNV

Red OPN1LW 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 Red
  • Mackenzie's Mission
Phenotypes
  • Blue cone monochromacy, MIM#303700
  • Colorblindness, protan, MIM#303900

Amber OPN1LW in Cone-rod Dystrophy


Level 2: Ophthalmological disorders
Version 0.54

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Blue cone monochromacy MIM#303700
    • Colourblindness, protan MIM#303900
    Tags
    • SV/CNV

    Red OPN1LW in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Mackenzie's Mission
    Phenotypes
    • Blue cone monochromacy, MIM#303700
    • Colorblindness, protan, MIM#303900