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Hearing loss

Gene: WHRN

Green List (high evidence)

WHRN (whirlin)
EnsemblGeneIds (GRCh38): ENSG00000095397
EnsemblGeneIds (GRCh37): ENSG00000095397
OMIM: 607928, Gene2Phenotype
WHRN is in 9 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)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

added new-gene-list tag
Created: 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 confirmed
Created: 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

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: Congenital hearing impairment (profound/severe)

17 Feb 2016, Gel status: 4

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

17 Feb 2016, Gel status: 4

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

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DFNB31 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

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

24 Jun 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DFNB31 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 4

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

24 Jun 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DFNB31 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 3

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

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DFNB31 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jun 2015, Gel status: 2

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

24 Jun 2015, Gel status: 1

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