Monogenic hearing loss
Gene: LRTOMTNew review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 3:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#611451:Deafness, autosomal recessive 63[Hearing loss, sensorineural, prelingual, severe to profound (affecting all frequencies)Downsloping audiogramNo vestibular dysfunction; Normal electroretinogram]
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:43 p.m.
Publications for LRTOMT were set to PMID:17066295; 17166180; 17211611; 18794526; 18953341
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene LRTOMT was changed to BIALLELIC, autosomal or pseudoautosomal
LRTOMT 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 LRTOMT was changed to BIALLELIC, autosomal or pseudoautosomal
LRTOMT 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 LRTOMT was changed to BIALLELIC, autosomal or pseudoautosomal
LRTOMT 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 LRTOMT was changed to BIALLELIC, autosomal or pseudoautosomal
LRTOMT 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
LRTOMT 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