LHFPL5

Chr 6

LHFPL tetraspan subfamily member 5

Also known as: DFNB67, TMHS, dJ510O8.8

NCBI Gene: 222662ENSG00000197753UniProt: Q8TAF8

This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, autosomal recessive, 67

Clinical highlights

Gene-disease validity (ClinGen)
nonsyndromic genetic hearing loss · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.43
LOEUF
LOF
Mechanism· G2P
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GeneReview available — LHFPL5
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.43LOEUF
pLI 0.000
Z-score 0.72
OE 0.73 (0.40–1.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.30Z-score
OE missense 0.93 (0.80–1.08)
124 obs / 133.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.73 (0.40–1.43)
0≤0.351.4
Missense OE?0.93 (0.80–1.08)
0≤0.61.4
Synonymous OE?0.79
0≤1.21.6
LoF obs/exp: 6 / 8.2Missense obs/exp: 124 / 133.8Syn Z: 1.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LHFPL5 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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