1. Genes and Genomic Entities
  2. PRPF8

PRPF8

pre-mRNA processing factor 8
OMIM: 607300, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red PRPF8 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 PRPF8 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PRPF8-related developmental disorder (monoallelic)
    Green PRPF8 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.74
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • PRPF8-related developmental disorder (monoallelic)
    • Retinitis pigmentosa 13, OMIM:600059
    Green PRPF8 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • PRPF8-related developmental disorder (monoallelic)
    • Retinitis pigmentosa 13, OMIM:600059
    Green PRPF8 in Retinal disorders


    Level 2: Ophthalmology
    Version 9.19
    Latest signed off version: v9.14 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Retinitis pigmentosa 13
    • Eye Disorders
    • Retinitis Pigmentosa, Dominant
    • Retinitis pigmentosa
    • Retinitis pigmentosa 13, 600059
    Red PRPF8 in Structural eye disease


    Level 2: Ophthalmology
    Version 5.8
    Latest signed off version: v5.7 (12 Aug 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Retinitis pigmentosa 13, 600059
    • Eye Disorders