Congenital myasthenic syndrome (CMS): genetic classification
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Congenital myasthenic syndrome (CMS): genetic classification. AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND. Fully referenced neurology checklist.
CMS genes
- AGRN
- ALG14
- ALG2
- CHAT
- CHD8
- CHRNA1
- CHRNB1
- CHRND
- CHRNE
- CHRNG
- COL13A1
- COLQ
- DOK7
- DPAGT1
- GFPT1
- GMPPB
- LAMA5
- LRP4
- MUSK
- MYO9A
- PLEC
- PREPL
- PURA
- RAPSN
- RPH3A
- SCN4A
- SLC18A3
- SLC25A1
- SLC5A7
- SNAP25B
- SYT2
- TOR1AIP1
- UNC13A
- VAMP1
References
- Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes-a comprehensive review. IntJ Mol Sci 2023; 24:3730.
- Muhmann D, Haliloğlu G, Grimalt MA, et al. Clinical variability and genotype-driven outcomes in CHRND-related congenital myasthenic syndrome. Eur J Neurol 2026; 33:e70742.
- Bauché S, Sureau A, Sternebrg D, et al. New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes. Neurol Genet 2020; 6:e534.
Related checklists
- Congenital myasthenic syndrome (CMS): pathway classification
- Congenital myasthenic syndrome (CMS): general features
- Congenital myasthenic syndrome (CMS): DOK7
- Congenital myasthenic syndrome (CMS): MUSK
- Congenital myasthenic syndrome (CMS): RAPSN
- Congenital myasthenic syndrome (CMS): COLQ
- Congenital myasthenic syndrome (CMS): AGRIN
- Congenital myasthenic syndrome (CMS): CHAT
- Congenital myasthenic syndrome (CMS): LAMB2
- Congenital myasthenic syndrome (CMS): GMPPB
- Congenital myasthenic syndrome (CMS): fast channel
- Congenital myasthenic syndrome (CMS): slow channel
- Congenital myasthenic syndrome (CMS): limb girdle
- Congenital myasthenic syndrome (CMS): glycosylation defects
- Congenital myasthenic syndrome with episodic apnoea (CMS-EA)
- Congenital myasthenic syndromes (CMS) presenting in adulthood
