Wilson Disease (ATP7B)

Wilson disease is an autosomal recessive disease caused by pathogenic variants in the gene ATP7B. While it is a pan-ethnic disease, it is found more frequently in individuals of Sephardic and Ashkenazi Jewish descent, as well as individuals from the Canary Islands and from Sardinia. As the protein encoded by ATP7B plays a role in copper transport, pathogenic variants in this gene result in the toxic accumulation of copper in different tissues in the body, particularly the liver, nervous system and eyes. Liver disease includes cirrhosis caused by chronic hepatitis, leading to liver failure. Copper depositions in the nervous system can cause neurologic symptoms including changes in behavior, parkinsonism, ataxia and dystonia, and psychiatric symptoms including anxiety, depression and psychosis. While the presence of two null variants is often associated with a more severe disease phenotype, the severity of the disease can vary within families, thereby making it difficult to predict disease severity based on genotype. Without treatment, life expectancy is estimated to be 40 years, but with prompt and efficient treatment, patients may have a normal lifespan.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Wilson DiseaseATP7B2-21 [21] (*18)ARCaucasian1 in 9056%0.00492610837438424
Wilson DiseaseATP7B2-21 [21] (*18)ARAsian1 in 5043%0.0114942528735632
Wilson DiseaseATP7B2-21 [21] (*18)ARAshkenazi Jewish1 in 67>95%0.000757002271006813
Wilson DiseaseATP7B2-21 [21] (*18)ARWorldwide1 in 9063%0.00413223140495868
Wilson DiseaseATP7B2-21 [21] (*18)ARCanary Islands1 in 2588%0.00497512437810945
Wilson DiseaseATP7B2-21 [21] (*18)ARSardinian1 in 4262%0.00917431192660551
Wilson DiseaseATP7B2-21 [21] (*18)ARSephardic Jewish – North African, Iraqi, Yemenite, Iran and Bukharian1 in 65>95%0.00078064012490242