TMC1

Chr 9

transmembrane channel like 1

Also known as: DFNA36, DFNB11, DFNB7

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, autosomal dominant, 36
UniProtDeafness, autosomal recessive, 7

Clinical highlights

Gene-disease validity (ClinGen)
nonsyndromic genetic hearing loss · ADDefinitivesufficient evidence for diagnostic panels
0
Active trials
48
Pubs (1 yr)
P/LP submissions
P/LP missense
0.97
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — TMC1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.97LOEUF
pLI 0.000
Z-score 1.69
OE 0.74 (0.560.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.86Z-score
OE missense 0.88 (0.810.96)
350 obs / 398.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.560.97)
00.351.4
Missense OE?0.88 (0.810.96)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 35 / 47.6Missense obs/exp: 350 / 398.2Syn Z: -0.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TMC1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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