CEP83

centrosomal protein 83
OMIM: 615847
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEPHRONOPHTHISIS 18
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 18 615862
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 18 615862
R-numbers: R202
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronopthisis 18 MIM 615862
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEPHRONOPHTHISIS 18