Cystic kidney disease

Gene: NPHP1

Green List (high evidence)

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

2 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Major nephronophthisis gene.
Created: 10 May 2016, 10:53 a.m.

Miranda Durkie (Genetics)

Green List (high evidence)

No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 12:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 1

Publications

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

10 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for NPHP1 was changed to BIALLELIC, autosomal or pseudoautosomal

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

15 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NPHP1 was added to Cystic kidney diseasepanel. Sources: Expert