PRPF4

pre-mRNA processing factor 4
OMIM: 607795, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green PRPF4 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 70