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GENATLAS PHENOTYPE
last update : 24-01-2018
Symbol DFNA36
Location 9q21.12
Name neurosensory deafness 36
Corresponding gene TMC1
Main clinical features progressive, non syndromic
Genetic determination autosomal dominant
Function/system disorder ear
Type disease
Gene product
Name transmembrane, cochlear expressed, 1
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
missense   abnormal protein/loss of function D572H or D572N
Remark(s)
Genotype/Phenotype correlations slower progression of hearing loss associated with D572H, in comparison with that caused by D572N