Tubulointerstitial kidney disease
Gene: NPHP3

NPHP3 (nephrocystin 3)
EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 24 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:NPHP3;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 3 MIM 604387; Meckel syndrome 7, MIM 267010; Renal-hepatic-pancreatic dysplasia 1, MIM 208540

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

Renal-hepatic-pancreatic dysplasia 1, MIM 208540
Meckel syndrome 7, MIM 267010
Nephronopthisis 3 MIM 604387

OMIM

608002

Clinvar variants

Variants in NPHP3

Penetrance

None

Panels with this gene

History Filter Activity

2 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: NPHP3 was added gene: NPHP3 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia 1, MIM 208540; Meckel syndrome 7, MIM 267010; Nephronopthisis 3 MIM 604387

Tubulointerstitial kidney disease Gene: NPHP3