This Panel is marked as Internal
ClinGen Gene Validity Curations
Gene: WHRN
WHRN (whirlin)
EnsemblGeneIds (GRCh38): ENSG00000095397
EnsemblGeneIds (GRCh37): ENSG00000095397
OMIM: 607928, Gene2Phenotype
WHRN is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000095397
EnsemblGeneIds (GRCh37): ENSG00000095397
OMIM: 607928, Gene2Phenotype
WHRN is in 8 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 11:51 a.m.
New HGNC-approved symbol for this gene is WHRN.Created: 23 Jun 2017, 8:36 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- ClinGen
- Expert Review Green
- Phenotypes
-
- Usher syndrome type 2D
- OMIM
- 607928
- Clinvar variants
- Variants in WHRN
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
5 Nov 2017, Gel status: 4
Changed Gene Name
GEL ()DFNB31 was changed to WHRN
5 Nov 2017, Gel status: 4
Removed Tag
GEL ()new-gene-name was removed from DFNB31. Panel: ClinGen Gene Validity Curations
23 Jun 2017, Gel status: 4
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DFNB31 were set to 17171570;21738389;22147658;26338283;12833159;16434480;20502675;12833159;20502675;28254438;27117407
23 Jun 2017, Gel status: 4
Changed Gene Name
Ellen McDonagh (Genomics England Curator)WHRN* was changed to DFNB31
22 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)WHRN* was created by ellenmcdonagh
22 Jun 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)WHRN* was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen,Expert Review Green