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Peutz-Jeghers syndrome

From SNPedia

Peutz-Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa (melanosis). Peutz–Jeghers syndrome is quite rare, with an incidence of approximately 1 in 25,000 to 300,000 births.Wikipedia

Most cases of Peutz-Jeghers syndrome are caused by (pathogenic) mutations in the STK11 gene, located on chromosome 19, and formerly known as the LKB1 gene.

Pathogenic mutations in the STK11 gene are considered actionable by ClinGen, and a ClinGen actionability summary is available in SNPedia here.