CEP76:Ensemblv90

centrosomal protein 76
ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CEP76 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.96

1 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 1.33

1 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 1.3802

1 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 1.508

1 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 0.235

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 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 Fetal anomalies


    Version 1.482

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038

    Green CEP76 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    • Expert Review Green
    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 2.0

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

    Green CEP76 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 1.0

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

    Green CEP76 in Fetal anomalies


    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038