TMIE Chromosome 3
Transmembrane inner ear
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What This Gene Does
This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment. [provided by RefSeq, Mar 2009]
Associated Conditions (9)
TMIE-related disorder
Autosomal recessive nonsyndromic hearing loss 6
Hearing loss
autosomal recessive
Sensorineural hearing loss disorder
Inborn genetic diseases
Ear malformation
Hearing impairment
Rare genetic deafness
Key Variants
RS10578999
Conflicting classifications of pathogenicity
TMIE-related disorder, TMIE-related disorder
Health Risk
RS188085072
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6
Health Risk
RS189895472
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6
Health Risk
RS201107982
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 6, TMIE-related disorder, Autosomal recessive nonsyndromic hearing loss 6
Health Risk
RS202208051
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 6, TMIE-related disorder, Autosomal recessive nonsyndromic hearing loss 6
Health Risk
RS28942096
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 6, Hearing loss, autosomal recessive
Health Risk
RS367618669
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6
Health Risk
RS370899710
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6
Health Risk
RS370964946
Conflicting classifications of pathogenicity
TMIE-related disorder, TMIE-related disorder
Health Risk
RS373379198
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6
Health Risk
RS375470385
Conflicting classifications of pathogenicity
Health Risk
RS397517867
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 6, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 6
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS10578999 | Health Risk | Conflicting classifications of pathogenicity | TMIE-related disorder, TMIE-related disorder |
| RS188085072 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6 |
| RS189895472 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6 |
| RS201107982 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 6, TMIE-related disorder, Autosomal recessive nonsyndromic hearing loss 6 |
| RS202208051 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 6, TMIE-related disorder, Autosomal recessive nonsyndromic hearing loss 6 |
| RS28942096 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 6, Hearing loss, autosomal recessive |
| RS367618669 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6 |
| RS370899710 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6 |
| RS370964946 | Health Risk | Conflicting classifications of pathogenicity | TMIE-related disorder, TMIE-related disorder |
| RS373379198 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6 |
| RS375470385 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS397517867 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 6, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 6 |
| RS397517869 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS567795032 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 6, TMIE-related disorder, Autosomal recessive nonsyndromic hearing loss 6 |
| RS62246206 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6 |
| RS746409545 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2106787058 | Health Risk | Likely pathogenic | Ear malformation, Ear malformation |
| RS28942097 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 6, Hearing loss, autosomal recessive |
| RS397517865 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS397517866 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS1180780309 | Health Risk | Pathogenic | — |
| RS1700545926 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6 |
| RS267607120 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6 |
| RS28941781 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6 |
| RS876657371 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6 |
| RS1057517839 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 6, Autosomal recessive nonsyndromic hearing loss 6 |
| RS780689605 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS876661301 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 6, Sensorineural hearing loss disorder, Autosomal recessive nonsyndromic hearing loss 6 |