LHFPL5 Chromosome 6
LHFPL tetraspan subfamily member 5
Upload your DNA to see your personal genotypes for variants in LHFPL5.
What This Gene Does
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]
Gene Info
Gene Group
LHFPL tetraspan proteins
Locus Type
gene with protein product
Location
6p21.31
Ensembl
ENSG00000197753
Associated Conditions (10)
LHFPL5-related disorder
Inborn genetic diseases
Autosomal recessive nonsyndromic hearing loss 67
Hearing impairment
Ear malformation
Rare genetic deafness
Autosomal recessive non-syndromic intellectual disability
Hearing loss
autosomal recessive
Deafness
Key Variants
RS139179263
Conflicting classifications of pathogenicity
LHFPL5-related disorder, Inborn genetic diseases, LHFPL5-related disorder
Health Risk
RS140326236
Conflicting classifications of pathogenicity
LHFPL5-related disorder, LHFPL5-related disorder
Health Risk
RS143126474
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67
Health Risk
RS146758343
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67
Health Risk
RS149941106
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67
Health Risk
RS202178128
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 67, LHFPL5-related disorder, Autosomal recessive nonsyndromic hearing loss 67
Health Risk
RS1389821363
Likely pathogenic
Hearing impairment, Hearing impairment
Health Risk
RS1581972457
Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 67, Ear malformation, Autosomal recessive nonsyndromic hearing loss 67
Health Risk
RS756030149
Likely pathogenic
Rare genetic deafness, Rare genetic deafness
Health Risk
RS104893975
Pathogenic
Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67
Health Risk
RS1445573930
Pathogenic
Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67
Health Risk
RS1554147220
Pathogenic
Autosomal recessive non-syndromic intellectual disability, Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive non-syndromic intellectual disability
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139179263 | Health Risk | Conflicting classifications of pathogenicity | LHFPL5-related disorder, Inborn genetic diseases, LHFPL5-related disorder |
| RS140326236 | Health Risk | Conflicting classifications of pathogenicity | LHFPL5-related disorder, LHFPL5-related disorder |
| RS143126474 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67 |
| RS146758343 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67 |
| RS149941106 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67 |
| RS202178128 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 67, LHFPL5-related disorder, Autosomal recessive nonsyndromic hearing loss 67 |
| RS1389821363 | Health Risk | Likely pathogenic | Hearing impairment, Hearing impairment |
| RS1581972457 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 67, Ear malformation, Autosomal recessive nonsyndromic hearing loss 67 |
| RS756030149 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS104893975 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67 |
| RS1445573930 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67 |
| RS1554147220 | Health Risk | Pathogenic | Autosomal recessive non-syndromic intellectual disability, Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive non-syndromic intellectual disability |
| RS2151070794 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67 |
| RS779841884 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 67, Hearing loss, autosomal recessive |
| RS1060499810 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67 |
| RS753739358 | Health Risk | Pathogenic/Likely pathogenic | Deafness, Deafness |
| RS756967336 | Health Risk | Pathogenic/Likely pathogenic | LHFPL5-related disorder, LHFPL5-related disorder |
| RS762876554 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 67, Hearing loss, autosomal recessive |