TMC1 Chromosome 9
Transmembrane channel like 1
Upload your DNA to see your personal genotypes for variants in TMC1.
What This Gene Does
This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Transmembrane channel like family
Locus Type
gene with protein product
Location
9q21.13
Ensembl
ENSG00000165091
Associated Conditions (16)
Autosomal dominant nonsyndromic hearing loss 36
Autosomal recessive nonsyndromic hearing loss 7
Inborn genetic diseases
Sensorineural hearing loss disorder
Nonsyndromic genetic hearing loss
Hearing impairment
Hearing loss
autosomal recessive
Rare genetic deafness
TMC1-related disorder
Monogenic hearing loss
Deafness
Delayed speech and language development
Moderate intellectual disability
Bilateral sensorineural hearing impairment
Ear malformation
Key Variants
RS1057515622
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
Health Risk
RS111033497
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
Health Risk
RS11143384
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
Health Risk
RS113342704
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36, Inborn genetic diseases
Health Risk
RS1181901214
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 7, Sensorineural hearing loss disorder, Autosomal recessive nonsyndromic hearing loss 7
Health Risk
RS121908074
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 7, Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 7
Health Risk
RS1391895910
Conflicting classifications of pathogenicity
Health Risk
RS139985214
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
Health Risk
RS140388347
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140398130
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
Health Risk
RS142073640
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
Health Risk
RS1439351996
Conflicting classifications of pathogenicity
Hearing impairment, Hearing impairment
Health Risk
All Variants (138)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2118284014 | Health Risk | Likely pathogenic | — |
| RS2118284330 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7 |
| RS2489883042 | Health Risk | Likely pathogenic | TMC1-related disorder, TMC1-related disorder |
| RS2489918394 | Health Risk | Likely pathogenic | — |
| RS2489926873 | Health Risk | Likely pathogenic | — |
| RS2489957810 | Health Risk | Likely pathogenic | — |
| RS2489958331 | Health Risk | Likely pathogenic | — |
| RS370088722 | Health Risk | Likely pathogenic | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36 |
| RS377731576 | Health Risk | Likely pathogenic | — |
| RS747645756 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 7, Nonsyndromic genetic hearing loss, Autosomal dominant nonsyndromic hearing loss 36 |
| RS756960425 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7 |
| RS767642609 | Health Risk | Likely pathogenic | — |
| RS780156287 | Health Risk | Likely pathogenic | Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss |
| RS1169090943 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7 |
| RS121908073 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 7, Rare genetic deafness, Hearing loss |
| RS1295277804 | Health Risk | Pathogenic | — |
| RS1300268466 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7 |
| RS1345926328 | Health Risk | Pathogenic | — |
| RS1381062033 | Health Risk | Pathogenic | — |
| RS1446953320 | Health Risk | Pathogenic | — |
| RS151001642 | Health Risk | Pathogenic | Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36 |
| RS1554731002 | Health Risk | Pathogenic | — |
| RS1564554148 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7 |
| RS1564555185 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7 |
| RS1564555240 | Health Risk | Pathogenic | Deafness, Hearing loss, autosomal recessive |
| RS1564583413 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7 |
| RS1826624806 | Health Risk | Pathogenic | — |
| RS1827646107 | Health Risk | Pathogenic | — |
| RS200171616 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7 |
| RS2118181420 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7 |
| RS2118318502 | Health Risk | Pathogenic | — |
| RS2489587191 | Health Risk | Pathogenic | — |
| RS2489719092 | Health Risk | Pathogenic | — |
| RS2489719475 | Health Risk | Pathogenic | — |
| RS2489814663 | Health Risk | Pathogenic | — |
| RS2489834670 | Health Risk | Pathogenic | — |
| RS2489883381 | Health Risk | Pathogenic | — |
| RS2489883553 | Health Risk | Pathogenic | Deafness, Deafness |
| RS2489883718 | Health Risk | Pathogenic | — |
| RS2489883765 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7 |
| RS2489915874 | Health Risk | Pathogenic | — |
| RS2489917857 | Health Risk | Pathogenic | — |
| RS2489925983 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7 |
| RS2489926285 | Health Risk | Pathogenic | — |
| RS2489926306 | Health Risk | Pathogenic | — |
| RS2489927459 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 7, Autosomal recessive nonsyndromic hearing loss 7 |
| RS2489958072 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 36, Autosomal dominant nonsyndromic hearing loss 36 |
| RS2489978728 | Health Risk | Pathogenic | — |
| RS2489984744 | Health Risk | Pathogenic | — |
| RS2489999464 | Health Risk | Pathogenic | — |