Genotype-Phenotype Features of Germline Variants of the <i>TMEM127</i> Pheochromocytoma Susceptibility Gene: A 10-Year Update

Abstract

Patients with TMEM127 variants often resemble sporadic nonmetastatic PHEOs. PGL and RCC may also co-occur, although their causal link requires further evaluation. We propose a new classification to predict variant pathogenicity and assist with carrier surveillance.