RP1

RP1, axonemal microtubule associated
OMIM: 603937, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green RP1 in Mendeliome


Version 1.3837

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 1 MIM#180100

Green RP1 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 0.229

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 1, 180100