Monogenic hearing loss
Gene: TMC1EnsemblGeneIds (GRCh38): ENSG00000165091
EnsemblGeneIds (GRCh37): ENSG00000165091
OMIM: 606706, Gene2Phenotype
TMC1 is in 1 panel
5 reviews
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Maria Bitner-Glindzicz (UCL)
Jun Shen (Harvard Medical School)
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
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 5:22 p.m.
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- hearing loss
- Nonsyndromic Hearing Loss, Dominant
- Deafness, autosomal recessive 7, 600974
- Nonsyndromic Hearing Loss, Recessive
- Nonsyndromic Hearing Loss, Dominant
- #606705:Deafness, autosomal dominant 36
- OMIM
- 606706
- Clinvar variants
- Variants in TMC1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TMC1 were set to PMID: 11850618; 11850623; 17250663; 17877751; 18616530; 19180119; 22105175; 24827932
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 TMC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TMC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TMC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TMC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)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
Added New Source
Ellen McDonagh (Genomics England Curator)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