Monogenic hearing loss
Gene: TMC1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
#600974:Deafness, autosomal recessive 7[Neurosensory nonsyndromic hearing impairment.]; #606705:Deafness, autosomal dominant 36[Hearing loss, sensorineural (high frequency loss followed by low frequency loss leading to profound loss of all frequencies)Tinnitus]
Publications
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 5:22 p.m.
New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:40 p.m.
Both recessive and dominant forms of nonsyndromic hearing loss are reported by Illumina for this gene.Created: 2 Jul 2015, 7:59 a.m.
Phenotypes for TMC1 were set to hearing loss; Nonsyndromic Hearing Loss, Dominant; Deafness, autosomal recessive 7, 600974; Nonsyndromic Hearing Loss, Recessive; Nonsyndromic Hearing Loss, Dominant; #606705:Deafness, autosomal dominant 36
Publications for TMC1 were set to PMID: 11850618; 11850623; 17250663; 17877751; 18616530; 19180119; 22105175; 24827932
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene TMC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TMC1 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 TMC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TMC1 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 TMC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TMC1 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 TMC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TMC1 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
TMC1 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