Tubulointerstitial kidney disease
Gene: NPHP4EnsemblGeneIds (GRCh38): ENSG00000131697
EnsemblGeneIds (GRCh37): ENSG00000131697
OMIM: 607215, Gene2Phenotype
NPHP4 is in 20 panels
1 review
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:NPHP4;Suggested initial gene rating: Green;Evidence for inclusion: none provided;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none providedCreated: 2 Feb 2019, 12:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronopthisis 4 MIM 606966; Senior-Loken syndrome 4 MIM 606996
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Nephronophthisis 4, OMIM:606966
- nephronophthisis 4, MONDO:0011752
- Senior-Loken syndrome 4, OMIM:606996
- Senior-Loken syndrome 4, MONDO:0011756
- OMIM
- 607215
- Clinvar variants
- Variants in NPHP4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Laterality disorders and isomerism
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Tubulointerstitial kidney disease
- Intellectual disability
- Skeletal dysplasia
- Retinal disorders
- Structural eye disease
- Fetal anomalies
- Cystic kidney disease
- Unexplained kidney failure in young people
- Ductal plate malformation
- Proteinuric renal disease
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
Set Phenotypes
Ida Ertmanska (Genomics England Curator)Phenotypes for gene: NPHP4 were changed from Senior-Loken syndrome 4 MIM 606996; Nephronopthisis 4 MIM 606966 to Nephronophthisis 4, OMIM:606966; nephronophthisis 4, MONDO:0011752; Senior-Loken syndrome 4, OMIM:606996; Senior-Loken syndrome 4, MONDO:0011756
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: NPHP4 was added gene: NPHP4 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHP4 were set to 12244321; 12205563 Phenotypes for gene: NPHP4 were set to Senior-Loken syndrome 4 MIM 606996; Nephronopthisis 4 MIM 606966