PRPF6

pre-mRNA processing factor 6
OMIM: 613979, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red PRPF6 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green PRPF6 in Retinal disorders


Level 2: Ophthalmology
Version 8.86
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 60, OMIM:613983
  • retinitis pigmentosa 60, MONDO:0013516
Red PRPF6 in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 60, 613983
  • Eye Disorders