RP1L1

RP1 like 1
OMIM: 608581, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green RP1L1 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Occult macular dystrophy (MIM#613587) AD
  • Retinitis pigmentosa 88 (MIM#618826) AR

Green RP1L1 in Retinitis pigmentosa_Autosomal Recessive/X-linked


Level 2: Ophthalmological disorders
Version 0.147

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • retinitis pigmentosa
    • Occult macular dystrophy, 613587

    Green RP1L1 in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 0.45

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Occult macular dystrophy, 613587