Rare multisystem ciliopathy disorders
Gene: WHRNEnsemblGeneIds (GRCh38): ENSG00000095397
EnsemblGeneIds (GRCh37): ENSG00000095397
OMIM: 607928, Gene2Phenotype
WHRN is in 8 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Usher syndrome not included in this panelCreated: 23 Jan 2017, 4:29 p.m.
Louise Daugherty (Genomics England Curator)
added new-gene-list tagCreated: 9 Dec 2016, 5:13 p.m.
Details
- Sources
-
- Expert Review Red
- 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: Rare multisystem ciliopathy disorders
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Created
Ellen McDonagh (Genomics England Curator)DFNB31 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)DFNB31 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory