1. Genes and Genomic Entities
  2. CEP78

CEP78

centrosomal protein 78
OMIM: 617110, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green CEP78 in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Cone-Rod Dystrophy and Hearing Loss
    • CRDHL
    • OMIM: 617236
    Green CEP78 in Retinal disorders


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

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    Phenotypes
    • Cone-Rod Dystrophy and Hearing Loss
    • CRDHL
    • OMIM: 617236