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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 mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function	causing defects in microvillar elongation or organisation

Remark(s)