List of diseases covered by
Congenital Myopathy and Distal Myopathy NGS panel

Gene Condition
ACTA1 Congenital myopathy with fiber type disproportion;
Myopathy, scapulohumeroperoneal; Nemaline myopathy 3
ANO5 Limb-girdle muscular dystrophy, type 2L;
Miyoshi muscular dystrophy 3; Gnathodiaphyseal dysplasia
BAG3 Dilated cardiomyopathy 1HH; Myofibrillar myopathy, BAG3-related
BIN1 Autosomal recessive centronuclear myopathy
CAV3 Distal myopathy, Tateyama type;
Limb-girdle muscular dystrophy, type 1C; Rippling muscle disease;
Familial hypertrophic cardiomyopathy 1
CCDC78 Myopathy, centronuclear, 4
CFL2 Nemaline myopathy 7
CNTN1 Myopathy, congenital, compton-north
COL6A1 Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1
COL6A3 Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Dystonia 27
COL12A1 Bethlem myopathy 2; Ullrich congenital muscular dystrophy 2
CRYAB Alpha-B crystallinopathy;
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related;
Dilated cardiomyopathy 1II
DES Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2r;
Dilated cardiomyopathy 1I; Scapuloperoneal syndrome, neurogenic, Kaeser type
DNAJB6 Limb-girdle muscular dystrophy, type 1E
DNM2 Myopathy, centronuclear, 1;
DNM2-related intermediate Charcot-Marie-Tooth neuropathy;
Lethal congenital contracture syndrome 5
DYSF Myopathy, distal, with anterior tibial onset; Miyoshi muscular dystrophy 1;
Limb-girdle muscular dystrophy, type 2B
FHL1 Myopathy, reducing body, X-linked, early-onset, severe;
Myopathy, reducing body, X-linked, childhood-onset;
Scapuloperoneal myopathy, X-linked dominant;
Myopathy with postural muscle atrophy, X-linked
FLNC Myopathy, distal, 4; Myofibrillar myopathy, filamin C-related;
Cardiomyopathy, familial hypertrophic, 26
GNE Nonaka myopathy
KLHL40 Nemaline myopathy 8
KLHL41 Nemaline myopathy 9
LDB3 Myofibrillar myopathy, ZASP-related; Primary dilated cardiomyopathy
LMOD3 Nemaline myopathy 10
MATR3 Amyotrophic lateral sclerosis 21
MEGF10 Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
MICU1 Myopathy with extrapyramidal signs
MTM1 Severe X-linked myotubular myopathy
MTMR14 Myopathy, centronuclear, 1
MYF6 Myopathy, centronuclear, 3
MYH7 Myosin storage myopathy; Myopathy, myosin storage, autosomal recessive;
Scapuloperoneal myopathy, MYH7-related; Myopathy, distal, 1;
Dilated cardiomyopathy 1S; Familial hypertrophic cardiomyopathy 1
MYOT Spheroid body myopathy; Myotilinopathy;
Limb-girdle muscular dystrophy, type 1A
NEB Nemaline myopathy 2
RYR1 Minicore myopathy with external ophthalmoplegia;
Central core disease; Malignant hyperthermia, susceptibility to, 1
SELENON Congenital myopathy with fiber type disproportion;
Eichsfeld type congenital muscular dystrophy
STAC3 Native American myopathy
SQSTM1 Distal myopathy with rimmed vacuoles;
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3;
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
TIA1 Welander distal myopathy
TNNT1 Nemaline myopathy 5
TPM2 Nemaline myopathy 4;
Arthrogryposis multiplex congenita distal type 1; Distal arthrogryposis type 2B
TPM3 Nemaline myopathy 1; Congenital myopathy with fiber type disproportion
TTN Hereditary myopathy with early respiratory failure;
Myopathy, early-onset, with fatal cardiomyopathy;
Distal myopathy Markesbery-Griggs type;
Limb-girdle muscular dystrophy, type 2J;
Familial hypertrophic cardiomyopathy 9; Dilated cardiomyopathy 1G
VCP Inclusion body myopathy with early-onset
paget disease and frontotemporal dementia;
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia;
Charcot-Marie-Tooth disease, axonal, type 2y