CEP78

centrosomal protein 78
OMIM: 617110, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CEP78 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cone-rod dystrophy and hearing loss MIM#617236

Green CEP78 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cone-rod dystrophy and hearing loss, MIM#617236

Green CEP78 in Usher Syndrome


Level 2: Ophthalmological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert list
Phenotypes
  • Cone-Rod Dystrophy and Hearing Loss, 617236

Green CEP78 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive

Green CEP78 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

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

Green CEP78 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cone-rod dystrophy and hearing loss, MIM#617236

Red CEP78 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Cone-rod dystrophy and hearing loss MIM#617236