Primary ciliary disorders

Gene: NPHP4

Red List (low evidence)

NPHP4 (nephrocystin 4)
EnsemblGeneIds (GRCh38): ENSG00000131697
EnsemblGeneIds (GRCh37): ENSG00000131697
OMIM: 607215, Gene2Phenotype
NPHP4 is in 23 panels

3 reviews

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Phenotype not relevant to isomerism / laterality. Excluded on this basis, rather than causation.
Created: 4 Jul 2017, 7:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Visceral Heterotaxy, Nephronophthisis 4

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)

NPHP4 was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory