LRTOMT

Chr 11AR

leucine rich transmembrane and O-methyltransferase domain containing

Also known as: CFAP111, DFNB63, LRRC51, LRRC51-TOMT

NCBI Gene: 220074ENSG00000284922UniProt: Q96E66OMIM: 612414

This gene encodes a fusion protein containing sequences from both LRRC51 (leucine-rich repeat containing 51) and TOMT (transmembrane O-methyltransferase), produced through naturally occurring readthrough transcription of neighboring genes on chromosome 11. Mutations cause nonsyndromic autosomal recessive deafness (DFNB63). The inheritance pattern is autosomal recessive.

OMIMResearchSummary from RefSeq, OMIM
AR1 OMIM phenotype
Clinical Summary— LRTOMT
🧬
Gene-Disease Validity (ClinGen)
autosomal recessive nonsyndromic hearing loss 63 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LRTOMT · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.
Sarmadi A et al.·BMC Med Genet
2020
Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness.
Salame M et al.·Eur Arch Otorhinolaryngol
2023
Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.
Mosrati MA et al.·Mol Genet Genomic Med
2021Cohort
Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families.
AitRaise I et al.·Biochem Genet
2024
Molecular aetiology of ski-slope hearing loss and audiological course of cochlear implantees.
Kim Y et al.·Eur Arch Otorhinolaryngol
2022
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients