Associated disorders

The CHRNE gene is associated with autosomal recessive and dominant forms of congenital myasthenic syndrome (CMS) (MedGen UIDs: 373251, 344169, 833673).

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Pathogenic variants in CHRNE cause an estimated 50% of clinical cases of congenital myasthenic syndrome.

CHRNE encodes the epsilon subunit of the muscle acetylcholine receptor. The acetylcholine receptor in postnatal muscle is composed of five subunits (2 alpha, 1 beta, 1 epsilon, and 1 delta) whereas in prenatal muscle the epsilon subunit is replaced by a gamma subunit. The acetylcholine receptor is located at the neuromuscular junction where it binds acetylcholine released by the terminal nerve cell.

Assay and technical information




Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
CHRNE* NM_000080.3
