Tubulointerstitial kidney disease
Gene: NPHP4

NPHP4 (nephrocystin 4)
EnsemblGeneIds (GRCh38): ENSG00000131697
EnsemblGeneIds (GRCh37): ENSG00000131697
OMIM: 607215, Gene2Phenotype
NPHP4 is in 20 panels

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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 provided
Created: 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

Mollet et al 2002 PMID: 12244321
Otto et al 2002 PMID: 12205563

Created: 2 Feb 2019, 12:48 a.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Senior-Loken syndrome 4 MIM 606996
Nephronopthisis 4 MIM 606966

OMIM

607215

Clinvar variants

Variants in NPHP4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Feb 2019, Gel status: 4

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

Tubulointerstitial kidney disease Gene: NPHP4