PanelApp
  1. Genes and Genomic Entities
  2. CEP83

CEP83

centrosomal protein 83
OMIM: 615847, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Red CEP83 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.202

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Nephronophthisis 18, MIM# 615862

    Green CEP83 in Ciliopathies


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.95

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nephronophthisis 18, MIM# 615862
    • MONDO:0014374
    • Retinal dystrophy
    • ID

    Green CEP83 in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.132

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nephronophthisis 18, MIM# 615862
    • MONDO:0014374
    • Hydrocephalus
    • ID

    Green CEP83 in Mendeliome


    Version 1.3795

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nephronophthisis 18, MIM# 615862
    • MONDO:0014374
    • Retinal dystrophy
    • ID

    Green CEP83 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.45

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Nephronophthisis 18, MIM# 615862
    • MONDO:0014374
    • Retinal dystrophy
    • ID

    Green CEP83 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.497

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Nephronophthisis 18, MIM# 615862
    • MONDO:0014374
    • Retinal dystrophy
    • ID

    Green CEP83 in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 0.225

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Nephronophthisis 18, MIM# 615862
    • MONDO:0014374
    • Retinal dystrophy
    • ID

    Green CEP83 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Nephronophthisis 18, MIM# 615862
    • MONDO:0014374
    • Retinal dystrophy
    • ID

    Green CEP83 in Fetal anomalies


    Version 1.481

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nephronophthisis 18, MIM# 615862
    • MONDO:0014374
    • Hydrocephalus
    • ID

    Red CEP83 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Nephronophthisis 18, MIM# 615862
    • ID
    • MONDO:0014374
    • Retinal dystrophy