Andersen-tawil syndrome

Inheritance

What does it mean to have inherited a "variant" or "variant of unknown significance" in the gene for Andersen-Tawil Syndrome?

Having a "variant of unknown significance" in the gene responsible for Andersen-Tawil Syndrome (KCNJ2) means that there was a change in this gene detected that currently doesn't have enough research or evidence to say whether it can cause Andersen-Tawil Syndrome or if it is a non disease causing (benign) change. As more research is performed, the "variant" may be reclassified as disease causing (pathogenic) or benign.

Review uncertain genetic testing results with a genetic counselor or medical geneticist. medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

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How is Andersen-Tawil Syndrome inherited?

How is Andersen-Tawil Syndrome inherited?

Andersen-Tawil Syndrome is inherited in an autosomal dominant pattern meaning that one change in the KCNJ2 gene is enough to cause symptoms of this condition. About 50% of people with Andersen-Tawil Syndrome have a parent with the condition. The other 50% of people have the condition as a result of a new (de novo) change in the gene.

If you are interested in genetic testing for Andersen-Tawil syndrome, speak with a medical geneticist or genetic counselor to help you obtain testing. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

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