CEP83

centrosomal protein 83
OMIM: 615847, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green CEP83 in Hydrocephalus


Version 2.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Nephronophthisis 18 615862

No list CEP83 in Ductal plate malformation


Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephronophthisis 18 (615862)

Green CEP83 in Tubulointerstitial kidney disease


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Nephronopthisis 18 MIM 615862

Green CEP83 in Cystic kidney disease

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • NEPHRONOPHTHISIS 18

Green CEP83 in Renal and urinary tract disorders


Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • NEPHRONOPHTHISIS 18

Green CEP83 in Unexplained paediatric onset end-stage renal disease


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • NEPHRONOPHTHISIS 18

Green CEP83 in Fetal anomalies


Version 0.371

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY

Green CEP83 in DDG2P


Version 1.176

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY

Green CEP83 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1135

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY

Green CEP83 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.122

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Orphanet
  • UKGTN
  • Expert list
Phenotypes
  • Nephronophthisis 18 615862

Green CEP83 in Renal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nephronophthisis 18 615862

Red CEP83 in Childhood onset dystonia or chorea or related movement disorder


Version 0.108

review Not set
Sources
  • Expert Review Red
  • London North GLH