1. Muscular dystrophies5. Other myopathies9. Metabolic myopathies13. Hereditary ataxias
2. Congenital muscular dystrophies6. Myotonic syndromes10. Hereditary cardiomyopathies14. Hereditary motor and sensory neuropathies
3. Congenital myopathies7. Ion channel muscle diseases11. Congenital myasthenic syndromes15. Hereditary paraplegias
4. Distal myopathies8. Malignant hyperthermia12. Motor neuron diseases16. Other neuromuscular disorders

11. CONGENITAL MYASTHENIC SYNDROMES (See references) - (download list of genes)
Grey lines background indicate newly added items
Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Slow channel syndromes - (AD)
11.1
7619526
8872460
9158151
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1
* Myasthenic syndrome, fast-channel congenital - FCCMS
* Myasthenic syndrome, slow-channel congenital - SCCMS
Slow channel syndromes - (AD)
11.2
8651643
8872460
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle
* Myasthenic syndrome, congenital, Ie, included - CMS1E
* Myasthenic syndrome, slow-channel congenital - SCCMS
Slow channel syndromes - (AD)
11.3
11782989
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta
* Myasthenic syndrome, slow-channel congenital - SCCMS
* Myasthenic syndrome, fast-channel congenital - FCCMS
Slow channel syndromes - (AD, AR)
11.4
12034803
7531341
8872460
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon
* Myasthenic syndrome, fast-channel congenital - FCCMS
* Myasthenic syndrome, slow-channel congenital - SCCMS
Fast channel syndrome - (AR)
11.5
10195214
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1
* Myasthenic syndrome, fast-channel congenital - FCCMS
* Myasthenic syndrome, slow-channel congenital - SCCMS
Fast channel syndrome - (AR)
11.6
11435464
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta
* Myasthenic syndrome, slow-channel congenital - SCCMS
* Myasthenic syndrome, fast-channel congenital - FCCMS
Fast channel syndrome - (AR)
11.7
8755487
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon
* Myasthenic syndrome, fast-channel congenital - FCCMS
* Myasthenic syndrome, slow-channel congenital - SCCMS
Acetylcholine receptor deficiency - (AR)
11.8
10562302
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle
* Myasthenic syndrome, congenital, Ie, included - CMS1E
* Myasthenic syndrome, slow-channel congenital - SCCMS
Acetylcholine receptor deficiency - (AR)
11.9
12499478
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta
* Myasthenic syndrome, slow-channel congenital - SCCMS
* Myasthenic syndrome, fast-channel congenital - FCCMS
Acetylcholine receptor deficiency - (AR)
11.10
8957026
9158150
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon
* Myasthenic syndrome, fast-channel congenital - FCCMS
* Myasthenic syndrome, slow-channel congenital - SCCMS
Congenital myasthenic syndrome related to rapsyn - (AR)
11.11
11791205
12651869
RAPSN (11p11.2-p11.1)
Rapsyn
* Myasthenic syndrome, congenital - CMS1D
Congenital myasthenic syndrome related to choline acetyltransferase - (AR)
11.12
11172068
1840566
CHAT (10q11.2)
Choline acetyltransferase isoform
* Myasthenia gravis, autosomal recessive - MGI
* Myasthenia gravis, familial infantile - FIMG
* Congenital myasthenic syndrome with choline acetyltransferase deficiency - CMS-EA
* Myasthenia gravis, familial infantile, 2 - FIMG2
Congenital myasthenic syndrome related to end-plate acetylcholin-esterase - (AR)
11.13
9758617
COLQ (3p25)
Acetylcholinesterase collagen-like tail subunit
* Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD
Congenital myasthenic syndrome related to MuSK - (AR)
11.14
15496425
MUSK (9q31.3-q32)
muscle, skeletal, receptor tyrosine kinase
* Congenital myasthenic syndrome related to MuSK - CMS1B
Familial limb-girdle myasthenia related to DOK7 - (AR)
11.15
16917026
18626973
DOK7 (4p16.2)
Docking protein 7
* Familial limb-girdle myasthenia related to DOK7 - CMS1B
Familial limb girdle myasthenia related to agrin - (AR)
11.16
19631309
AGRN (1p36.33)
Agrin
* Familial limb girdle myasthenia related to agrin - CMS1B
Familial limb girdle myasthenia with tubular aggregates related to GFPT1 - (AR)
11.17
21310273
GFPT1 (2p12-p15)
Glutamine-fructose-6-phosphate transaminase 1
* Familial limb girdle myasthenia with tubular aggregates related to GFPT1 - CMSTA1
Familial limb-girdle myasthenia with tubular aggregates related to DPAGT1 - (AR)
11.18
22742743
DPAGT1 (11q23.3)
Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
* Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 - CMSTA2
Congenital myasthenic syndrome with nephrotic syndrome - (AR)
11.19
19251977
LAMB2 (3p21)
Laminin, beta 2 (laminin S)
* Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien
Myasthenic syndrome, acetazolamide-responsive - (AR)
11.20
12766226
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha
* Hyperkalemic periodic paralysis - HYPP
* Myotonia potassium-aggravatd
* Sodium-channel myasthenia
* Myasthenic syndrome, acetazolamide-responsive
* Hyperkalemic periodic paralysis, type 2 - HOKPP2
* Paramyotonia congenita of Von Eulenburg - PMC
* Potassium-aggravated myotonia
Escobar syndrome (multiple pterygium syndrome) - (AR)
11.21
16826520
16826531
CHRNG (2q33-q34)
Cholinergic receptor, nicotinic, gamma polypeptide
* Escobar syndrome (multiple pterygium syndrome) - EVMPS
Myasthenic syndrome, with plectin defect - (AR)
11.22
10446808
21263134
PLEC (8q24.3)
plectin
* Limb-girdle, muscular dystrophy, type 2q - LGMD2Q
* Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS
* Myasthenic syndrome, with plectin defect
* Limb girdle muscular dystrophy with ophthalmoplegia
Congenital myasthenic syndrome with tubular aggregates - (AR)
11.23
23404334
ALG2 (9q31.1)
Alpha-1,3/1,6-mannosyltransferase
* Congenital myasthenic syndrome related to ALG2
Congenital myasthenic syndrome related to ALG14 - (AR)
11.24
23404334
ALG14 (1p21.3)
UDP-N-acetylglucosaminyltransferase
* Congenital myasthenic syndrome related to ALG14
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - (AD)
11.25
25192047
SYT2 (1q32.1)
Synaptotagmin II
* Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC
Congenital myasthenic syndrome related to PREPL deficiency
11.26
24610330
PREPL (2p22.1)
Prolyl endopeptidase-like
* Congenital myasthenic syndrome related to PREPL deficiency
Congenital myasthenic syndrome - (AR)
11.27
24234652
LRP4 (11p11.2)
LDL receptor related protein 4
* Congenital myasthenic syndrome - CMS17
Congenital myasthenic syndrome with intellectual disability and ataxia - (AD)
11.28
25381298
SNAP25 (20p12.2)
synaptosome associated protein 25
* Congenital myasthenic syndrome with intellectual disability and ataxia - CMS18
Congenital myasthenic syndrome type 19 - (AR)
11.29
26626625
COL13A1 (10q22.1)
collagen type XIII alpha 1 chain
* Congenital myasthenic syndrome type 19 - CMS19
Congenital myasthenic syndrome with episodic apnea - (AR)
11.30
27569547
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7
* Motor neuropathy, distal, with vocal cord paralysis - HMN7
* Congenital myasthenic syndrome with episodic apnea - CMS20
Congenital Myasthenia - (AR)
11.31
27259756
MYO9A (15q23)
myosin IXA
* Congenital Myasthenia
Congenital Myasthenic syndrome related to GMPPB - (AR)
11.32
26133662
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B
* Muscle-eye-brain disease - MDDGA14
* Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14
* Congenital Myasthenic syndrome related to GMPPB