NPHP1

PanelMode of inheritanceDetails
10 panels
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 2.2
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOUBERT SYNDROME TYPE 4 609583, NEPHRONOPHTHISIS TYPE 1 256100, SENIOR-LOKEN SYNDROME TYPE 1 266900
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SENIOR-LOKEN SYNDROME TYPE 1, NEPHRONOPHTHISIS TYPE 1, JOUBERT SYNDROME TYPE 4
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
Nephronophthisis 1, juvenile, 256100Senior-Loken syndrome-1, 266900Joubert syndrome 4, 609583, SENIOR-LOKEN SYNDROME TYPE 1 (SLSN1)
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 4, Senior-Loken syndrome, 256100 Senior-Loken syndrome-1, 266900, 609583 Nephronophthisis 1, juvenile, Nephronophthisis
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 4, Senior-Loken syndrome, 256100 Senior-Loken syndrome-1, 266900, 609583 Nephronophthisis 1, juvenile, Nephronophthisis
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
Joubert syndrome 4, Senior-Loken syndrome, 256100 Senior-Loken syndrome-1, 266900, 609583 Nephronophthisis 1, juvenile, Nephronophthisis
R-numbers: R32, R33, R34, R35
Signed-off version 2.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders
R-numbers: R202
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 4 MIM 609583, Senior-Loken syndrome-1 MIM 266900, Nephronopthisis 1, juvenile MIM 256100
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 4 609583, Ciliopathy genes associated with cystic kidney disease, Senior-Loken syndrome-1 266900, Nephronophthisis 1, juvenile 256100