CEP76

centrosomal protein 76
Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CEP76 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.62

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
  • Joubert syndrome
  • Bardet-Biedl syndrome
  • retinitis pigmentosa

Amber CEP76 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.28

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
  • Joubert syndrome
  • Bardet-Biedl syndrome
  • retinitis pigmentosa

Green CEP76 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
  • Joubert syndrome
  • Bardet-Biedl syndrome
  • retinitis pigmentosa

Green CEP76 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038
  • Joubert syndrome
  • Bardet-Biedl syndrome
  • retinitis pigmentosa

Green CEP76 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 0.219

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038
    • Joubert syndrome
    • Bardet-Biedl syndrome
    • retinitis pigmentosa