Primary ciliary disorders
Gene: WHRNEnsemblGeneIds (GRCh38): ENSG00000095397
EnsemblGeneIds (GRCh37): ENSG00000095397
OMIM: 607928, Gene2Phenotype
WHRN is in 8 panels
3 reviews
Louise Daugherty (Genomics England Curator)
added new-gene-list tagCreated: 9 Dec 2016, 5:13 p.m.
Ian Berry (Leeds Genetics Laboratory)
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 panelCreated: 8 Dec 2015, 4:25 p.m.
Phenotypes
ciliopathies
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- ciliopathies
- OMIM
- 607928
- Clinvar variants
- Variants in WHRN
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Changed Gene Name
GEL ()DFNB31 was changed to WHRN
Removed Tag
GEL ()new-gene-name was removed from DFNB31. Panel: Primary ciliary disorders
Added New Source
Ellen McDonagh (Genomics England Curator)DFNB31 was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory