NPHP4

PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEPHRONOPHTHISIS TYPE 4 606966
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEPHRONOPHTHISIS TYPE 4
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Senior-Loken syndrome, Nephronophthisis, Senior-Loken syndrome 4, 606996, Nephronophthisis 4, 606966
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Senior-Loken syndrome, Nephronophthisis, Senior-Loken syndrome 4, 606996, Nephronophthisis 4, 606966
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders
R-numbers: R202
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Senior-Loken syndrome 4 MIM 606996, Nephronopthisis 4 MIM 606966
R-numbers: R257
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Senior-Loken syndrome 4 606996, Ciliopathy genes associated with cystic kidney disease, Nephronophthisis 4 606966