Genomics England
GMS Panels
Panels
Genes and Entities

NPHP1

nephrocystin 1
OMIM: 607100
PanelMode of inheritanceDetails
9 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
JOUBERT SYNDROME TYPE 4 609583, NEPHRONOPHTHISIS TYPE 1 256100, SENIOR-LOKEN SYNDROME TYPE 1 266900
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SENIOR-LOKEN SYNDROME TYPE 1, NEPHRONOPHTHISIS TYPE 1, JOUBERT SYNDROME TYPE 4
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 1, juvenile, 256100Senior-Loken syndrome-1, 266900Joubert syndrome 4, 609583, SENIOR-LOKEN SYNDROME TYPE 1 (SLSN1)
Green
in Neurological ciliopathies
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 4, Senior-Loken syndrome, 256100 Senior-Loken syndrome-1, 266900, 609583 Nephronophthisis 1, juvenile, Nephronophthisis
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
Joubert syndrome 4, Senior-Loken syndrome, 256100 Senior-Loken syndrome-1, 266900, 609583 Nephronophthisis 1, juvenile, Nephronophthisis
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
Joubert syndrome 4, Senior-Loken syndrome, 256100 Senior-Loken syndrome-1, 266900, 609583 Nephronophthisis 1, juvenile, Nephronophthisis
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 1, juvenile, OMIM:256100, nephronophthisis 1, MONDO:0009728, Senior-Loken syndrome-1, OMIM:266900, Senior-Loken syndrome 1, MONDO:0009962, Joubert syndrome 4, OMIM:609583, Joubert syndrome with renal defect, MONDO:0012308