Unexplained kidney failure in young people
Gene: NPHP4EnsemblGeneIds (GRCh38): ENSG00000131697
EnsemblGeneIds (GRCh37): ENSG00000131697
OMIM: 607215, Gene2Phenotype
NPHP4 is in 20 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM and with Nephronophthisis 4 606966 in G2P. At least five variants reported in Nephronophthisis 4 606966 and at least two in Senior-Loken syndrome 4 606996Created: 5 Aug 2016, 8:15 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert
- Phenotypes
-
- Nephronophthisis 4 606966
- Senior-Loken syndrome 4 606996
- OMIM
- 607215
- Clinvar variants
- Variants in NPHP4
- Penetrance
- Complete
- Panels with this gene
-
- Laterality disorders and isomerism
- Structural eye disease
- Ophthalmological ciliopathies
- Intellectual disability
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Proteinuric renal disease
- Fetal anomalies
- Unexplained kidney failure in young people
- Ductal plate malformation
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Retinal disorders
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: NPHP4 were changed from Nephronophthisis 4 606966; Senior-Loken syndrome 4 606996 to Nephronophthisis 4 606966; Senior-Loken syndrome 4 606996
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NPHP4 were set to Nephronophthisis 4 606966; Senior-Loken syndrome 4 606996
Upload gene information
Sarah Leigh (Genomics England Curator)NPHP4 was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NPHP4 were set to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 4 606966; Senior-Loken syndrome 4 606996
Created
Sarah Leigh (Genomics England Curator)NPHP4 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)NPHP4 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Green