In conclusion, we identified a novel ET-associated gene in ET patients and generated three Slc38a6 deletion mouse models (Slc38a6-/-, Slc38a6+/- and Slc38a6PC-/-) that displayed tremor and pathological changes in the cerebellum similar to those in the postmortem brains of ET patients, suggesting that SLC38A6 loss-of-function variants may lead to ET symptoms. Here, SLC38A6 is linked to essential thrombocythemia.