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Unexplained kidney failure in young people

Gene: NPHP1

Green List (high evidence)

NPHP1 (nephrocystin 1)
EnsemblGeneIds (GRCh38): ENSG00000144061
EnsemblGeneIds (GRCh37): ENSG00000144061
OMIM: 607100, Gene2Phenotype
NPHP1 is in 22 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reported for Nephronophthisis 1, juvenile 256100 and one variant for Joubert syndrome 4 609583 and Senior-Loken syndrome-1 266900
Created: 5 Aug 2016, 8:07 a.m.

History Filter Activity

17 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 17th August 2016

5 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

5 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

NPHP1 was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

27 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NPHP1 were set to Joubert syndrome 4 609583; Nephronophthisis 1, juvenile 256100; Senior-Loken syndrome-1 266900

16 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

NPHP1 was created by sleigh

16 May 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NPHP1 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Green