Renal and urinary tract disorders
Gene: NPHP1EnsemblGeneIds (GRCh38): ENSG00000144061
EnsemblGeneIds (GRCh37): ENSG00000144061
OMIM: 607100, Gene2Phenotype
NPHP1 is in 20 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reported for Nephronophthisis 1, juvenile 256100 and one variant for Joubert syndrome 4 609583 and Senior-Loken syndrome-1 266900Created: 5 Aug 2016, 8:07 a.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Major nephronophthisis gene.Created: 10 May 2016, 10:53 a.m.
Miranda Durkie (Genetics)
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 12:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 1
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- Joubert syndrome 4 609583
- Nephronophthisis 1, juvenile 256100
- Senior-Loken syndrome-1 266900
- OMIM
- 607100
- Clinvar variants
- Variants in NPHP1
- Penetrance
- None
- Publications
-
- 266900
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Tubulointerstitial kidney disease
- Ocular coloboma
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Neurological ciliopathies
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Miranda Durkie: No current test experience but
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: NPHP1 were changed from Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 4 to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 4 609583; Nephronophthisis 1, juvenile 256100; Senior-Loken syndrome-1 266900
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes Joubert syndrome 4 for gene: NPHP1 Publications for gene NPHP1 were changed from to 266900
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NPHP1 was added gene: NPHP1 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP1 were set to Ciliopathy genes associated with cystic kidney disease