TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Affiliation

Department of Pediatrics, University of Washington, Seattle, Washington, USA. [Email]

Abstract

TANGO2-related disorders were first described in 2016 and prior to this publication, only 15 individuals with TANGO2-related disorder were described in the literature. Primary features include metabolic crisis with rhabdomyolysis, encephalopathy, intellectual disability, seizures, and cardiac arrhythmias. We assess whether genotype and phenotype of TANGO2-related disorder has expanded since the initial discovery and determine the efficacy of exome sequencing (ES) as a diagnostic tool for detecting variants.

Keywords

developmental delay DNA copy-number variation,epilepsy,exome sequencing,intragenic deletion,