LOVD - Current system status

2018/12/16 11:43:12 CET - Sunday, December 16th 2018

Gene symbol Gene name Total variants Unique variants Patients
CAPN3 Calpain-3 2863 496 1750
DOK7 Docking protein 7 503 106 286
DYSF Dysferlin 2296 510 1332
EMD Emery-Dreifuss muscular dystrophy (emerin) 219 107 225
GK Glycerol Kinase 174 33 115
IGHMBP2 Immunoglobulin mu binding protein 2 174 84 69
ITGA7 Integrin, alpha 7 179 40 141
LDB3 LIM domain binding 3 (ZASP) 101 16 82
LMNA Lamin A/C 1511 344 1405
MATR3 Matrin 3 123 3 69
MSTN Myostatin 312 26 275
MTM1 Myotubularin 1 529 290 526
MTMR14 Myotubularin related protein 14 33 29 33
MYBPC3 Myosin binding protein C, cardiac 961 414 914
MYH7 myosin, heavy chain 7, cardiac muscle, beta 533 387 496
MYL2 Myosin, light chain 2, regulatory, cardiac, slow 80 29 76
MYL3 Myosin, light chain 3, alkali; ventricular, skeletal, slow 74 20 70
MYOT Myotilin (Titin immunoglobulin domain) 138 22 135
MYOZ1 Myozenin 1 11 6 11
MYOZ2 Myozenin 2 39 7 36
MYOZ3 Myozenin 3 19 3 19
MYPN Myopalladin 1474 58 1445
NEB Nebulin 495 268 262
NEFL Neurofilament, light polypeptide 3 3 3
NTRK1 neurotrophic tyrosine kinase, receptor, type 1 724 152 531
PDK3 Pyruvate dehydrogenase kinase, isozyme 3 26 5 26
PDLIM3 PDZ and LIM domain 3 21 12 19
PLEC Plectin 71 45 57
PMP22 Peripheral myelin protein 22 2 2 2
PTRF Polymerase I and Transcript Release Factor (cavin-1) 42 3 34
RAB7A RAB7A, member RAS oncogene family 8 4 8
RAPSN Receptor-associated protein of the synapse 1008 65 395
RYR1 RYanodine Receptor 1 (skeletal) 2129 435 1935
TCAP Titin-cap (telethonin) 81 31 60
TNPO3 Transportin 3 65 3 65
TPM1 tropomyosin 1 (alpha) 177 32 226
TPM2 Tropomyosin 2 520 41 378
TPM3 Tropomyosin 3 87 34 78
TRDN Triadin 12 3 9
TRIM32 Tripartite motif-containing 32 127 19 73
  Total of 40 gene entries 17944 4187 13645