LRTOMT

Chr 11AR

leucine rich transmembrane and O-methyltransferase domain containing

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

NCBI Gene: 220074 ENSG00000284922 UniProt: Q8WZ04 OMIM: 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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM

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]

GeneReviews OMIM ResearchGenerating clinical summary…

AR1 OMIM phenotype

Clinical Summary— LRTOMT

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Gene-Disease Validity (ClinGen)

autosomal recessive nonsyndromic hearing loss 63 · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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ClinVar Variants

27 unique Pathogenic / Likely Pathogenic· 163 VUS of 296 total submissions

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GeneReview available — LRTOMT

Authoritative clinical overview · Recommended first read

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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

296 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic15

Likely Pathogenic12

VUS163

Likely Benign57

Benign15

Conflicting18

Pathogenic

Likely Pathogenic

163

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	13	2	0	0	15
Likely Pathogenic	6	5	1	0	12
VUS	2	119	35	7	163
Likely Benign	1	9	20	27	57
Benign	0	2	13	0	15
Conflicting	—				18
Total	22	137	69	34	280

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

9 pathogenic / likely-pathogenic (of 14) ClinVar copy-number / structural variants overlap LRTOMT — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →