Monogenic hearing loss
Gene: WHRNEnsemblGeneIds (GRCh38): ENSG00000095397
EnsemblGeneIds (GRCh37): ENSG00000095397
OMIM: 607928, Gene2Phenotype
WHRN is in 8 panels
6 reviews
Ellen McDonagh (Genomics England Curator)
New review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:59 p.m.
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Maria Bitner-Glindzicz (UCL)
Louise Daugherty (Genomics England Curator)
added new-gene-list tagCreated: 9 Dec 2016, 5:11 p.m.
Jun Shen (Harvard Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#607084:Deafness, autosomal recessive 31[Hearing loss, sensorineural (bilateral, profound, and prelingual)]; #611383:Usher syndrome, type 2D[Hearing loss, congenital, moderateNo vestibular dysfunction; Night vision blindnessCataract, subcapsular (in some patients)Retinitis pigmentosaBone-spicule pigmentation in midperiphery of retinaWaxy optic disc appearanceAttenuated vessels, mild to moderate]
Publications
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:09 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- #607084:Deafness, autosomal recessive 31
- #611383:Usher syndrome, type 2D
- hearing loss
- Nonsyndromic Hearing Loss, Recessive
- OMIM
- 607928
- Clinvar variants
- Variants in WHRN
- Penetrance
- Complete
- Publications
- 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: Congenital hearing impairment (profound/severe)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DFNB31 were set to #607084:Deafness, autosomal recessive 31; #611383:Usher syndrome, type 2D; hearing loss; Nonsyndromic Hearing Loss, Recessive
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DFNB31 were set to PMID: 10819331; 11973626; 12641734; 12833159; 15590698; 15590699; 15654330; 15841483; 16434480; 16829577; 17171570; 17906286; 22147658
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene DFNB31 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)DFNB31 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene DFNB31 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)DFNB31 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene DFNB31 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)DFNB31 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene DFNB31 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)DFNB31 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)DFNB31 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert