Genomics England
GMS Panels
Panels
Genes and Entities

CEP83

centrosomal protein 83
OMIM: 615847
PanelMode of inheritanceDetails
7 panels
Green
in Cystic kidney disease
Component of the following Super Panels:
  • - Cystic renal disease
  • - Unexplained young onset end-stage renal disease
Signed-off version 9.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEPHRONOPHTHISIS 18
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 5.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 18, OMIM:615862
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Green
in Renal ciliopathies
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
  • - Unexplained young onset end-stage renal disease
Signed-off version 5.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 18 615862
Green
in Tubulointerstitial kidney disease
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R202
Signed-off version 3.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 18, OMIM:615862, nephronophthisis 18, MONDO:0014374