CEP250

centrosomal protein 250
OMIM: 609689, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green CEP250 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.25
Latest signed off version: v4.0 (22 Mar 2023)

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 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.81
    Latest signed off version: v4.0 (22 Mar 2023)

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