OTOGL Chromosome 12
Otogelin like
Upload your DNA to see your personal genotypes for variants in OTOGL.
What This Gene Does
The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2012]
Associated Conditions (13)
Autosomal recessive nonsyndromic hearing loss 84B
OTOGL-related disorder
Inborn genetic diseases
Sarcoma
Hearing impairment
Rare genetic deafness
Cervical cancer
Monogenic hearing loss
Nonsyndromic genetic hearing loss
Hearing loss
autosomal recessive
See cases
Meniere disease
Key Variants
RS112430701
Conflicting classifications of pathogenicity
Health Risk
RS117411391
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
Health Risk
RS12422945
Conflicting classifications of pathogenicity
Health Risk
RS1280466701
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
Health Risk
RS138823379
Conflicting classifications of pathogenicity
OTOGL-related disorder, OTOGL-related disorder
Health Risk
RS138970850
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139232378
Conflicting classifications of pathogenicity
OTOGL-related disorder, OTOGL-related disorder
Health Risk
RS139375212
Conflicting classifications of pathogenicity
Health Risk
RS143101932
Conflicting classifications of pathogenicity
Inborn genetic diseases, OTOGL-related disorder, Inborn genetic diseases
Health Risk
RS143495342
Conflicting classifications of pathogenicity
OTOGL-related disorder, Inborn genetic diseases, OTOGL-related disorder
Health Risk
RS144125797
Conflicting classifications of pathogenicity
OTOGL-related disorder, Sarcoma, OTOGL-related disorder
Health Risk
RS145929269
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (126)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS779988517 | Health Risk | Conflicting classifications of pathogenicity | Rare genetic deafness, Rare genetic deafness |
| RS78377084 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1191512072 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS1325710910 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS1398515998 | Health Risk | Likely pathogenic | Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss |
| RS1476896214 | Health Risk | Likely pathogenic | OTOGL-related disorder, OTOGL-related disorder |
| RS1477766714 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B |
| RS1555286164 | Health Risk | Likely pathogenic | — |
| RS1555296476 | Health Risk | Likely pathogenic | — |
| RS1565920060 | Health Risk | Likely pathogenic | Hearing loss, autosomal recessive, Hearing loss |
| RS1592726662 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS1888382829 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B |
| RS190997924 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS2137737853 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS2137876491 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B |
| RS2137943672 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B |
| RS2541054175 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS2541196393 | Health Risk | Likely pathogenic | OTOGL-related disorder, OTOGL-related disorder |
| RS2541458142 | Health Risk | Likely pathogenic | — |
| RS368266167 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS370730786 | Health Risk | Likely pathogenic | OTOGL-related disorder, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 84B |
| RS377761767 | Health Risk | Likely pathogenic | — |
| RS756233978 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS762459214 | Health Risk | Likely pathogenic | — |
| RS763898293 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B |
| RS770917728 | Health Risk | Likely pathogenic | — |
| RS777911261 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B |
| RS1173779851 | Health Risk | Pathogenic | — |
| RS1233562246 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B |
| RS1338746267 | Health Risk | Pathogenic | — |
| RS1343148883 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B |
| RS1435458212 | Health Risk | Pathogenic | — |
| RS1439667525 | Health Risk | Pathogenic | — |
| RS1482428150 | Health Risk | Pathogenic | — |
| RS2137738321 | Health Risk | Pathogenic | — |
| RS2138034575 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B |
| RS2138093778 | Health Risk | Pathogenic | — |
| RS2541018989 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B |
| RS2541196551 | Health Risk | Pathogenic | — |
| RS2541228873 | Health Risk | Pathogenic | — |
| RS2541309342 | Health Risk | Pathogenic | — |
| RS2541403255 | Health Risk | Pathogenic | — |
| RS372483661 | Health Risk | Pathogenic | — |
| RS374198258 | Health Risk | Pathogenic | — |
| RS374272301 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B |
| RS397514588 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 84B, OTOGL-related disorder, Autosomal recessive nonsyndromic hearing loss 84B |
| RS564117765 | Health Risk | Pathogenic | — |
| RS754300929 | Health Risk | Pathogenic | Monogenic hearing loss, Monogenic hearing loss |
| RS755481648 | Health Risk | Pathogenic | — |
| RS755763110 | Health Risk | Pathogenic | — |