Primary ciliary disorders

Gene: NPHP3

Red List (low evidence)

NPHP3 (nephrocystin 3)
EnsemblGeneIds (GRCh38): ENSG00000113971
EnsemblGeneIds (GRCh37): ENSG00000113971
OMIM: 608002, Gene2Phenotype
NPHP3 is in 26 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.


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.


History Filter Activity

16 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NPHP3 was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory