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LOXHD1

Synonyms
DFNB77, LH2D1
External resources
Summary
This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
72
Likely pathogenic
0
VUS
6,213
Likely benign
3,659
Benign
2,293

Patient phenotypes

Proportions of phenotypes among 65 patients carring pathogenic or likely pathogenic variants on LOXHD1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the ear
18.5%
Abnormality of the musculoskeletal system
18.5%
Abnormality of the nervous system
15.4%
Abnormality of the cardiovascular system
13.8%
Abnormality of head or neck
12.3%
Abnormality of the digestive system
12.3%
Abnormality of the eye
12.3%
Abnormality of the genitourinary system
10.8%
Neoplasm
6.2%
Abnormality of prenatal development or birth
4.6%
Abnormality of the endocrine system
4.6%
Growth abnormality
4.6%
Abnormality of the immune system
3.1%
Abnormality of the integument
3.1%
Abnormality of blood and blood-forming tissues
1.5%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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