List of diseases covered by
Congenital Myasthenic Syndrome NGS panel

Gene Condition
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects
ALG2 Myasthenic syndrome, congenital, 14, with tubular aggregates;
Congenital disorder of glycosylation, type Ii
ALG14 Myasthenic syndrome, congenital, 15,
without tubular aggregates
CHAT Myasthenic syndrome, congenital, 6, presynaptic
CHRNA1 Multiple pterygium syndrome, lethal type;
Myasthenic syndrome, congenital, 1A, slow-channel;
Myasthenic syndrome, congenital, 1B, fast-channel
CHRNB1 Myasthenic syndrome, congenital, 2C,
associated with acetylcholine receptor deficiency;
Myasthenic syndrome, congenital, 2A, slow-channel
CHRND Myasthenic syndrome, congenital, 3A, slow-channel;
Myasthenic syndrome, congenital, 3C,
associated with acetylcholine receptor deficiency;
Multiple pterygium syndrome, lethal type;
Myasthenic syndrome, congenital, 3B, fast-channel
CHRNE Myasthenic syndrome, congenital, 4A, slow-channel;
Myasthenic syndrome, congenital, 4B, fast-channel;
Myasthenic syndrome, congenital, 4C,
associated with acetylcholine receptor deficiency
COLQ Myasthenic syndrome, congenital, 5
DOK7 Myasthenic syndrome, congenital, 10; Fetal akinesia deformation sequence
DPAGT1 Myasthenic syndrome, congenital, 13, with tubular aggregates;
Congenital disorder of glycosylation, type Ij
GFPT1 Myasthenia, congenital, 12, with tubular aggregates
GMPPB Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 14;
Muscular dystrophy-dystroglycanopathy
(congenital with mental retardation), type B, 14;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities;
Pierson syndrome
LRP4 Myasthenic syndrome, congenital, 17;
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2
MUSK Myasthenic syndrome, congenital, 9,
associated with acetylcholine receptor deficiency;
Fetal akinesia deformation sequence
PLEC Epidermolysis bullosa simplex with nail dystrophy;
Epidermolysis bullosa simplex with muscular dystrophy;
Epidermolysis bullosa simplex with pyloric atresia;
Epidermolysis bullosa simplex, Ogna type;
Muscular dystrophy, limb-girdle, autosomal recessive 17
PREPL Myasthenic syndrome, congenital, 22
RAPSN Myasthenic syndrome, congenital, 11,
associated with acetylcholine receptor deficiency;
Fetal akinesia deformation sequence
SCN4A Myasthenic syndrome, congenital, 16; Hyperkalemic periodic paralysis, type 2;
Hypokalemic periodic paralysis, type 2;
Myotonia congenita, atypical, acetazolamide-responsive;
Paramyotonia congenita
SLC5A7 Myasthenic syndrome, congenital, 20, presynaptic;
Neuronopathy, distal hereditary motor, type VIIA
SNAP25 Myasthenic syndrome, congenital, 18
SYT2 Myasthenic syndrome, congenital, 7, presynaptic