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Wilson's disease

From SNPedia

At a minimum, these SNPs are known to be related, and others may also be

Wilson's disease or hepatolenticular degeneration is an autosomal recessive disease in which copper accumulates in tissues, leading to neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required.Wikipedia

The condition is due to mutations in the Wilson disease protein (ATP7B) gene. A single abnormal copy of the gene is present in 1 in 100 people, who do not develop any symptoms (they are carriers). If a child inherits abnormal ATP7B alleles from both parents, the child may develop Wilson's disease. Symptoms usually appear between the ages of 6 and 20 years, but cases in much older people have been described. Wilson's disease occurs in 1 to 4 people per 100,000. Wikipedia

A ClinGen Actionability summary (see Actionability (ClinGen)) providing recommendations for individuals with ATP7B mutations is available here.

Mutations listed in SNPedia for the ATP7B gene include: