PhenomeGene — Human Disease Gene Website SeriesKCNH1

Molecular characteristics

TBS and ZLS are known as ‘autosomal dominant’ conditions. Our genes come in pairs, and for an autosomal dominant condition to arise, an individual only needs a mistake in one copy of that gene pair. The gene involved in TBS and ZLS is called KCNH1, which produces a protein that helps cells ‘talk’ to each other. People with TBS or ZLS have a KCNH1 error that causes an overactive protein.

Neither condition is inherited. Instead, the gene error arises as a random mistake. People with TBS or ZLS don’t tend to have children of their own, but if they do, the chance in their offspring of having a similar condition is 50%