* Biallelic, pathogenic (disease-causing) variants affecting both ATP7B alleles are required to develop Wilson disease. Typically, one pathogenic variant is inherited from each parent. Most patients with Wilson disease are compound heterozygotes.
¶ For patients with discordant findings (ie, symptomatic patient with Kayser-Fleischer ring, elevated urinary copper excretion but normal ceruloplasmin), we typically obtain genetic testing also because normal ceruloplasmin is uncommon in patients with Wilson disease.