Monogenic hearing loss
Gene: USH2ANew review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#276901:Usher syndrome, type 2A[Hearing loss, congenital, sensorineural, moderate-severeNormal vestibular response; Retinitis pigmentosa, progressive]; #613809:Retinitis pigmentosa 39[<omim version=1.0><clinicalSynopsisList>]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 5:31 p.m.
Phenotypes for USH2A were set to hearing loss; Usher syndrome, type 2A, 276901; #613809:Retinitis pigmentosa 39
Publications for USH2A were set to PMID: 10090909; 10729113; 10775529; 10909849; 11402400; 12160733; 12427073; 12525556; 14970843; 15015129; 15024643; 15025721; 16098008; 16301216; 16301217; 17085681; 17296898; 17360538; 17405132; 18273898; 18665195; 18826961; 19881469; 20440071; 20507924; 22009552; 25823529; 9624053
Mode of inheritance for USH2A was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
USH2A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
USH2A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
USH2A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
USH2A was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert