Genomics England
GMS Panels
Panels
Genes and Entities

NPHP4

nephrocystin 4
OMIM: 607215
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 9.0
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEPHRONOPHTHISIS TYPE 4 606966
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NEPHRONOPHTHISIS TYPE 4
Green
in Ophthalmological ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Senior-Loken syndrome, Nephronophthisis, Senior-Loken syndrome 4, 606996, Nephronophthisis 4, 606966
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Senior-Loken syndrome, Nephronophthisis, Senior-Loken syndrome 4, 606996, Nephronophthisis 4, 606966
Green
in Retinal disorders
R-numbers: R32
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders
Green
in Tubulointerstitial kidney disease
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R202
Signed-off version 3.32
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 4, OMIM:606966, nephronophthisis 4, MONDO:0011752, Senior-Loken syndrome 4, OMIM:606996, Senior-Loken syndrome 4, MONDO:0011756