Primary ciliary disorders

Gene: NPHP1

Red List (low evidence)

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

2 reviews

Ian Berry (Leeds Genetics Laboratory)

Red List (low evidence)

Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.
Created: 8 Dec 2015, 5:33 p.m.

Phenotypes
ciliopathies

Hannah Mitchison (UCL and GOSH)

This is a ciliopathy but not a Primary Ciliary Disorder gene and should be removed from the panel
Created: 8 Dec 2015, 4:25 p.m.

Phenotypes
ciliopathies

History Filter Activity

16 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NPHP1 was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory