Monogenic hearing loss
Gene: OTOFNew review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#601071:Deafness, autosomal recessive 9[Deafness, sensorineural (severe to profound)No auditory brainstem response (ABR)Absence of acoustic middle ear muscle reflexesU- or bowl-shaped audiogramNormal otoacoustic emissions (OAE), indicating intact outer ear hair cell functionOAE responses may decrease with age or use of hearing aids; Deafness, sensorineural]
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 4:08 p.m.
Phenotypes for OTOF were set to Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 9, 601071; hearing loss; Auditory neuropathy, autosomal recessive, 1, 601071
Publications for OTOF were set to PMID:10192385; 10843812; 10878664; 10903124; 12114484; 12127154; 12525542; 14635104; 16097006; 16371502; 17055430; 19250381; 19417007; 22575033; 9657592
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene OTOF was changed to BIALLELIC, autosomal or pseudoautosomal
OTOF 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 OTOF was changed to BIALLELIC, autosomal or pseudoautosomal
OTOF 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 OTOF was changed to BIALLELIC, autosomal or pseudoautosomal
OTOF 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 OTOF was changed to BIALLELIC, autosomal or pseudoautosomal
OTOF 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
OTOF 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