TMEM127

Mutations in the TMEM127 often lead to the development of pheochromocytomas (PCCs) and paragangliomas (PGLs).  PGLs are typically benign neuroendocrine tumors that form in neuroendocrine tissue throughout the body.  When these tumors are found on the adrenal glands they are referred to as PCCs.  These tumors can cause headaches, increased heart rate, and anxiety.  Individuals with this mutation should get a physical and blood pressure exam every 6-12 months, a urinary excretion exam annually, and periodic MRI or CT of the head, neck, abdomen, thorax, and pelvic area.  Mutations in TMEM127 are inherited in an autosomal dominant manner, meaning each first degree relative (parent, child, and sibling) of an individual with this condition has a 50% chance of inheriting the disease causing mutation.

Resources

https://www.invitae.com/en/physician/genes/20562/