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 0.64

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

Green CEP78 in Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.247
Latest signed off version: v2.5 (13 Feb 2020)

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 2.285
Latest signed off version: v2.195 (5 Aug 2021)

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