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Definition

Autosomal dominant conditions are caused by variants in genes on one of the 22 autosomal chromosomes. An individual only has to have one copy of the causal variants for the condition to present.

Use in clinical context

Individuals have two copies of each gene on the autosomes and both can contribute to an individual’s phenotype. When a dominant variant is present it is expressed irrespective of the variant on the other copy of the gene. These conditions can still be influenced by other factors, resulting in the phenotype not being expressed despite an individual having the dominant variant or different presentations of the associated phenotype.

Last updated on 25th June, 2019