Monogenic hearing loss
Gene: USH1CNew review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#276904:Usher syndrome, type 1C[Sensorineural hearing loss, profound congenitalVestibular hypofunction; Retinitis pigmentosa, progressive (prepubertal onset)Retinitis pigmentosa, sector type (in some patients)]; #602092:Deafness, autosomal recessive 18A[Nonsyndromic sensorineural hearing loss]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 5:28 p.m.
Phenotypes for USH1C were set to Nonsyndromic Hearing Loss, Recessive; Acadian and Samaritan variety Usher syndrome, type 1C, 276904; hearing loss; Deafness, autosomal recessive 18A, 602092
Publications for USH1C were set to PMID: 10209257; 10973233; 10973247; 10973248; 11139240; 11810303; 12107438; 12136232; 12407180; 12485990; 12545275; 12630964; 12702164; 14519688; 15590703; 15643617; 16301216; 16679490; 20639393; 21487335; 22135276; 23251578; 25262649; 9760205
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene USH1C was changed to BIALLELIC, autosomal or pseudoautosomal
USH1C was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene USH1C was changed to BIALLELIC, autosomal or pseudoautosomal
USH1C was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene USH1C was changed to BIALLELIC, autosomal or pseudoautosomal
USH1C was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene USH1C was changed to BIALLELIC, autosomal or pseudoautosomal
USH1C was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
USH1C was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert