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GENATLAS PHENOTYPE |
last update : 30-01-2009 |
Symbol | DFNA11 |
Location | 11q13.5 |
HGNC id | 2784 |
Name | neurosensory deafness 11 |
Corresponding gene | MYO7A |
related resource | Genetics hearing impairment |
Main clinical features | non syndromic, postlingual, progressive, Japanese kindred, (allelic to DFNB2), with vestibular involvement |
Genetic determination | autosomal dominant |
Function/system disorder | ear |
Type | disease |
Gene product |
Name | myosin VIIA (MYO7A) |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| various types
|  
|  
| mutation impairing calmodulin binding
| |
Remark(s) |