Ophthalmological ciliopathies

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 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.

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.

Joubert syndrome; Nephronophthisis


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


History Filter Activity

8 Jul 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: NPHP1 was added gene: NPHP1 was added to Ophthalmological 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