CEP250

centrosomal protein 250
OMIM: 609689, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CEP250 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cone-rod dystrophy and hearing loss 2, MIM# 618358

Green CEP250 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cone-rod dystrophy and hearing loss 2, MIM# 618358

Green CEP250 in Usher Syndrome


Level 2: Ophthalmological disorders
Version 1.5

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Usher-like disease
    • Cone-rod dystrophy and hearing loss 2, 618358

    Red CEP250 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Cone-rod dystrophy and hearing loss 2 MIM#618358