Condition: Deafness, Autosomal Recessive 7


rs121908074 in TMC1 gene and Deafness, Autosomal Recessive 7 PMID 11850618 2002 Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.

PMID 21252500 2011 Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.

PMID 23208854 2013 A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.