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Proteinuric renal disease

Gene: NPHP4

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

1 review

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: NPHP4; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 17954299; PMID 26346198 ; Other comments: Gene reported multiple times in association with FSGS, unsure of number of cases presenting with nephrotic range proteinuria
Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 4 #606966

Publications

Created: 4 Feb 2019, 10:41 a.m.

Panel version: 1.16

History Filter Activity

23 Jun 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: NPHP4 were changed from to Nephronophthisis 4 #606966

23 Jun 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: NPHP4 were set to

4 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: NPHP4 was added gene: NPHP4 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: NPHP4 was set to