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rs200245469(A;G)

From SNPedia
Hereditary PGL/PCC Syndrome
Is agenotype
ofrs200245469
GeneSDHB
Chromosome1
Position17,022,724
mentionedby
Magnitude6.2
ReputeBad
Geno Mag Summary
(A;G) 6.2 Hereditary PGL/PCC Syndrome
(G;G) 0 common in clinvar

This is a genotype with recommended actions if clinically confirmed. In brief:

  • Hereditary PGL/PCC syndrome includes developing paragangliomas (tumors that usually occur along the spine) and pheochromocytomas (tumors on the adrenal glands the organ that sits on top of the kidneys).
  • Dominantly inherited mutations in at least seven genes may lead to this syndrome.
  • While most paraganglial tumors are noncancerous, they may overproduce hormones leading to high blood pressure and other issues, and, patients are at higher risk for certain cancers.
  • Regular clinical and biochemical monitoring by a physician or medical team with expertise in treatment of hereditary PGL/PCC syndromes is essential, preferably beginning as early as age 10 (depending on which gene is mutated).
  • PGL/PCC patients are sensitive to low oxygen environments and probably should avoid smoking or living at high altitude.
  • Disease progression is variable among mutation carriers. However, it is known that carriers of SDHD, SDHAF2, or MAX mutations inherited from a father are at significantly higher risk than carriers of maternally inherited PGL/PCC mutations.

The full ClinGen Actionability report about Hereditary Paraganglioma-Pheochromocytoma syndrome (PGL/PCC) 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.