Monogenic hearing loss
Gene: OTOANew review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:30 p.m.
Possible pseudogene interferenceCreated: 10 Apr 2018, 4:25 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
#607039:Deafness, autosomal recessive 22[Deafness, sensorineural, severe to profound affecting all frequencies]
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 4:07 p.m.
Phenotypes for OTOA were set to hearing loss; #607039: Deafness, autosomal recessive 22 [Deafness, sensorineural, severe to profound affecting all frequencies]
Publications for OTOA were set to PMID:11972037; 19888295; 23173898
Mode of inheritance for OTOA was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
OTOA was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
OTOA was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
OTOA was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
OTOA was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert