PRPF31

pre-mRNA processing factor 31
OMIM: 606419, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green PRPF31 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 11, MIM#600138
Tags
  • SV/CNV

Green PRPF31 in Retinitis pigmentosa_Autosomal Dominant


Level 2: Ophthalmological disorders
Version 0.57

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 11, 600138
    Tags
    • SV/CNV