| Geno
|
Mag
|
Summary
|
| (A;G)
|
5
|
Hyperparathyroidism
|
| (G;G)
|
0
|
common in clinvar
|
| (G;T)
|
5
|
Hyperparathyroidism
|
This is a genotype with recommended actions if clinically confirmed. In brief:
- Mutations in the CDC73 gene may lead to several related hyperparathyroid syndromes, most of which lead to elevated serum parathyroid hormone and calcium levels, with related cancer, kidney and bone issues.
- Pregnant patients and patients considering parathyroid surgery should seek advanced management from specialists.
- Surveillance recommendations are not well established, but can include serum calcium testing and ultrasound exams of the parathyroid.
- Individuals with CDC73-related disorders should avoid dehydration, radiation exposure, and extrathyroid neck biopsies.
The full ClinGen Actionability report about hyperparathyroidism (HPRT2) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
