1. Genes and Genomic Entities
  2. CEP76

CEP76

centrosomal protein 76
Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber CEP76 in Malformations of cortical development


Level 2: Neurology
Version 7.52
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ciliopathy, MONDO:0005308
    • Joubert syndrome, MONDO:0018772
    • Bardet-Biedl syndrome, MONDO:0015229
    Tags
    • Q1_26_promote_green
    Green CEP76 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.189
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Joubert syndrome
    • Bardet-Biedl syndrome
    • retinitis pigmentosa
    • complex neurodevelopmental disorder MONDO:0100038
    Tags
    • gene-checked
    Amber CEP76 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.123
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • retinitis pigmentosa, MONDO:0019200
    • Joubert syndrome, MONDO:0018772
    • Bardet-Biedl syndrome, MONDO:0015229
    Tags
    • Q1_26_promote_green
    Amber CEP76 in Ophthalmological ciliopathies


    Level 2: Ophthalmology
    Version 5.22
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ciliopathy, MONDO:0005308
    • Joubert syndrome, MONDO:0018772
    • Bardet-Biedl syndrome, MONDO:0015229
    Tags
    • Q1_26_promote_green
    Amber CEP76 in Neurological ciliopathies


    Level 2: Neurology
    Version 6.17
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • retinitis pigmentosa, MONDO:0019200
    • Joubert syndrome, MONDO:0018772
    • Bardet-Biedl syndrome, MONDO:0015229
    Tags
    • Q1_26_promote_green