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References OMIM Gene GeneReviews HGMD HGNC
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 mutationChromosome rearrangementEffectComments
various types     mutation impairing calmodulin binding
Remark(s)