1. Genes and Genomic Entities
  2. CEP250

CEP250

centrosomal protein 250
OMIM: 609689, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green CEP250 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
    • Literature
    Phenotypes
    • Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780
    Green CEP250 in Retinal disorders


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

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • RetNet
    Phenotypes
    • Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780