LRTOMT Chromosome 11
Leucine rich transmembrane and O-methyltransferase domain containing
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What This Gene Does
This locus represents naturally occurring readthrough transcription between the neighboring LRRC51 (leucine-rich repeat containing 51) and TOMT (transmembrane O-methyltransferase) genes on chromosome 11. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. Multiple reports implicate mutations in this gene in nonsyndromic deafness.[provided by RefSeq, Feb 2021]
Gene Info
Gene Group
Cilia and flagella associated
Locus Type
readthrough
Location
11q13.4
Ensembl
ENSG00000284922
Associated Conditions (4)
Autosomal recessive nonsyndromic hearing loss 63
Inborn genetic diseases
LRTOMT-related disorder
Rare genetic deafness
Key Variants
RS111537544
Conflicting classifications of pathogenicity
Health Risk
RS1372399805
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63
Health Risk
RS181092713
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63
Health Risk
RS188715129
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 63, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 63
Health Risk
RS373088272
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 63, LRTOMT-related disorder, Autosomal recessive nonsyndromic hearing loss 63
Health Risk
RS397516626
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63
Health Risk
RS537610140
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 63, LRTOMT-related disorder, Inborn genetic diseases
Health Risk
RS540371915
Conflicting classifications of pathogenicity
Health Risk
RS727503153
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS76657474
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 63, LRTOMT-related disorder, Autosomal recessive nonsyndromic hearing loss 63
Health Risk
RS774544844
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63
Health Risk
RS780299621
Conflicting classifications of pathogenicity
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111537544 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1372399805 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63 |
| RS181092713 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63 |
| RS188715129 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 63, Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 63 |
| RS373088272 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 63, LRTOMT-related disorder, Autosomal recessive nonsyndromic hearing loss 63 |
| RS397516626 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63 |
| RS537610140 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 63, LRTOMT-related disorder, Inborn genetic diseases |
| RS540371915 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS727503153 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS76657474 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 63, LRTOMT-related disorder, Autosomal recessive nonsyndromic hearing loss 63 |
| RS774544844 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63 |
| RS780299621 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS876657502 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS923848175 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS999863107 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1298804148 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63 |
| RS1391956558 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63 |
| RS1565331646 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63 |
| RS137853185 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 63, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 63 |
| RS137853186 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63 |
| RS137853187 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63 |
| RS137853188 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63 |
| RS1565330066 | Health Risk | Pathogenic | — |
| RS769877492 | Health Risk | Pathogenic | — |
| RS780468292 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 63, Autosomal recessive nonsyndromic hearing loss 63 |
| RS797044907 | Health Risk | Pathogenic | Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 63, Inborn genetic diseases |
| RS545947177 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 63, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 63 |