Monogenic hearing loss
Gene: WHRNNew review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
added new-gene-list tagCreated: 9 Dec 2016, 5:11 p.m.
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
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:09 p.m.
DFNB31 was changed to WHRN
new-gene-name was removed from DFNB31. Panel: Congenital hearing impairment (profound/severe)
Phenotypes for DFNB31 were set to #607084:Deafness, autosomal recessive 31; #611383:Usher syndrome, type 2D; hearing loss; Nonsyndromic Hearing Loss, Recessive
Publications for DFNB31 were set to PMID: 10819331; 11973626; 12641734; 12833159; 15590698; 15590699; 15654330; 15841483; 16434480; 16829577; 17171570; 17906286; 22147658
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene DFNB31 was changed to BIALLELIC, autosomal or pseudoautosomal
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
Model of inheritance for gene DFNB31 was changed to BIALLELIC, autosomal or pseudoautosomal
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
Model of inheritance for gene DFNB31 was changed to BIALLELIC, autosomal or pseudoautosomal
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
Model of inheritance for gene DFNB31 was changed to BIALLELIC, autosomal or pseudoautosomal
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
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