OPN1MW

opsin 1, medium wave sensitive
OMIM: 300821, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber OPN1MW in Mendeliome


Version 1.1891

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, deutan - MIM#303800
Tags
  • SV/CNV

Amber OPN1MW 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, deutan MIM#303800
    Tags
    • SV/CNV