Renal and urinary tract disorders
Gene: NPHP4EnsemblGeneIds (GRCh38): ENSG00000131697
EnsemblGeneIds (GRCh37): ENSG00000131697
OMIM: 607215, Gene2Phenotype
NPHP4 is in 20 panels
3 reviews
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.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Good evidence in nephronophthisis.Created: 10 May 2016, 12:28 p.m.
Miranda Durkie (Genetics)
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 12:10 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 4
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- Nephronophthisis 4 606966
- Senior-Loken syndrome 4 606996
- OMIM
- 607215
- Clinvar variants
- Variants in NPHP4
- Penetrance
- None
- Panels with this gene
-
- Laterality disorders and isomerism
- Renal ciliopathies
- Ophthalmological ciliopathies
- Tubulointerstitial kidney disease
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Proteinuric renal disease
- 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: NPHP4 were changed from Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 4 to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 4 606966; Senior-Loken syndrome 4 606996
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Nephronophthisis 4 for gene: NPHP4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NPHP4 was added gene: NPHP4 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP4 were set to Ciliopathy genes associated with cystic kidney disease