Primary ciliary disorders

Gene: PKHD1

Red List (low evidence)

PKHD1 (PKHD1, fibrocystin/polyductin)
EnsemblGeneIds (GRCh38): ENSG00000170927
EnsemblGeneIds (GRCh37): ENSG00000170927
OMIM: 606702, Gene2Phenotype
PKHD1 is in 18 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)

PKHD1 was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory