Monogenic hearing loss
Gene: OTOFEnsemblGeneIds (GRCh38): ENSG00000115155
EnsemblGeneIds (GRCh37): ENSG00000115155
OMIM: 603681, Gene2Phenotype
OTOF is in 2 panels
5 reviews
Ellen McDonagh (Genomics England Curator)
New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:52 p.m.
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Maria Bitner-Glindzicz (UCL)
Jun Shen (Harvard Medical School)
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]
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 4:08 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Nonsyndromic Hearing Loss, Recessive
- Deafness, autosomal recessive 9, 601071
- hearing loss
- Auditory neuropathy, autosomal recessive, 1, 601071
- OMIM
- 603681
- Clinvar variants
- Variants in OTOF
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for OTOF were set to Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 9, 601071; hearing loss; Auditory neuropathy, autosomal recessive, 1, 601071
Set publications
Ellen McDonagh (Genomics England Curator)Publications for OTOF were set to PMID:10192385; 10843812; 10878664; 10903124; 12114484; 12127154; 12525542; 14635104; 16097006; 16371502; 17055430; 19250381; 19417007; 22575033; 9657592
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene OTOF was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene OTOF was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene OTOF was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene OTOF was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)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
Added New Source
Ellen McDonagh (Genomics England Curator)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