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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 29-08-2015
Symbol DFNA26
Location 1p36.31
HGNC id 2797
Name neurosensory deafness 26
Corresponding gene ESPN
Main clinical features mild form and late onset, without vestibular signs
Genetic determination autosomal dominant
Function/system disorder ear
Type disease
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
missense   abnormal protein/loss of function causing defects in microvillar elongation or organisation
Remark(s)