CMTRIB

Candidate Gene | 2024

Clinical Basics

Subtype
CMTRIB

Classification
Candidate

Genetic Context

HGNC-Approved Gene Symbol
KARS1

Gene Full Name
lysyl-tRNA synthetase 1

Chromosome
16q23.1

ClinVar Pathogenic Variants

View CMTRIB ClinVar Variants

KARS1 OMIM Entry

KARS1 OMIM

Updated: August 16, 2026 | By: K. Raymond

The Dorsal Root

More From The Dorsal Root


A Name That Does Too Much Work

Jean-Martin Charcot's name appears throughout medicine, but nowhere does it create more confusion than in the foot. Learn why the CMT foot and Charcot neuroarthropathy, also known as Charcot foot, share a name yet differ in how they develop, appear, and are managed.


When Medicine Lost Its Compass

Evidence failed not because it was wrong, but because it was weaponized. I lived the downstream effects of that failure for more than a decade. This is what happens when medicine forgets that data always ends in a human being.


Error 404: Gene Not Found

CMT genetic testing often fails to identify the cause of the disease, even when comprehensive panels are used. Here, we discuss why this happens, what genetic tests can and cannot do, and why a negative result still matters.

© 2020–2026 Experts in CMT