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Renal ciliopathies

Gene: NPHP1

Green List (high evidence)
NPHP1 (nephrocystin 1)
EnsemblGeneIds (GRCh38): ENSG00000144061
EnsemblGeneIds (GRCh37): ENSG00000144061
OMIM: 607100, Gene2Phenotype
NPHP1 is in 20 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Additional functional evidence from murine model: A near-total NPHP1 knockout mouse model (deleted exons 2-20) reproduced the renal and extrarenal phenotypes associated with human nephronophthisis, including renal cyst development, tubular basement membrane thickening, retinal degeneration and abnormal spermatogenesis. In addition, re-expression of NPHP1 could partially rescue both renal and retinal phenotypes in Nphp1del2–20/del2–20 mice.
Created: 12 Dec 2022, 5:52 p.m. | Last Modified: 12 Dec 2022, 5:52 p.m.
Panel Version: 2.1

Publications

Created: 12 Dec 2022, 5:52 p.m.
Last Modified: 12 Dec 2022, 5:52 p.m.
Panel version: 2.1

Ellen McDonagh (Genomics England Curator)

Comment on phenotypes: Nephronophthisis
Created: 28 Aug 2016, 7:26 a.m.
Comment on list classification: Variants within this gene cause Nephronophthisis. Nephronophthisis is a feature of Senior-Loken syndrome, and of Joubert syndrome 4.
Created: 28 Aug 2016, 7:26 a.m.
Created: 28 Aug 2016, 7:26 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.79

Penny Clouston (Oxford)

Green List (high evidence)

On current diagnostic panel and positive familes within patient cohort. Evidence from literature.
Created: 15 Mar 2016, 3:20 p.m.

Phenotypes
Joubert syndrome; Nephronophthisis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Mar 2016, 3:20 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Joubert syndrome" panel version 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 4
  • Senior-Loken syndrome
  • 256100 Senior-Loken syndrome-1, 266900
  • 609583 Nephronophthisis 1, juvenile
  • Nephronophthisis
OMIM
607100
Clinvar variants
Variants in NPHP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2022, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: NPHP1 were set to 15138899; 22982934; 15689444

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: NPHP1 was added gene: NPHP1 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHP1 were set to 15138899; 22982934; 15689444 Phenotypes for gene: NPHP1 were set to Joubert syndrome 4; Senior-Loken syndrome; 256100 Senior-Loken syndrome-1, 266900; 609583 Nephronophthisis 1, juvenile; Nephronophthisis