Glaucoma (developmental)
Gene: WHRNEnsemblGeneIds (GRCh38): ENSG00000095397
EnsemblGeneIds (GRCh37): ENSG00000095397
OMIM: 607928, Gene2Phenotype
WHRN is in 8 panels
3 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Usher syndrome, type 2D; 611383
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Usher syndrome, type 2D, 611383
Louise Daugherty (Genomics England Curator)
added new-gene-list tagCreated: 9 Dec 2016, 5:11 p.m.
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- 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: Glaucoma (developmental)
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
Added New Source
Eik Haraldsdottir (Genomics England)DFNB31 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory