CEP78

centrosomal protein 78
OMIM: 617110, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green CEP78 in ClinGen Gene Validity Curations


Version 0.65

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Cone-Rod Dystrophy and Hearing Loss
  • CRDHL
  • OMIM:617236
Green CEP78 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39 (1 May 2024)

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 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.6
    Latest signed off version: v5.0 (1 May 2024)

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