CAKUT

Gene: NPHP3

Green List (high evidence)

NPHP3 (nephrocystin 3)
EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 26 panels

3 reviews

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green as two reviewers in agreement.
Created: 29 Mar 2016, 10:21 a.m.

Helen Stuart (University of Manchester)

Green List (high evidence)

More appropriate for cystic renal disease panel
Created: 17 Oct 2015, 8:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: NPHP3 were changed from Nephronophthisis 3, 604387Renal-hepatic-pancreatic dysplasia 1, 208540Meckel syndrome 7, 267010; Renal-Hepatic-Pancreatic Dysplasia to Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540; Meckel syndrome 7, 267010; Renal-Hepatic-Pancreatic Dysplasia

29 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NPHP3 was changed to BIALLELIC, autosomal or pseudoautosomal

14 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

NPHP3 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

14 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NPHP3 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services