LOVD - Current system status

2018/08/16 18:29:40 CEST - Thursday, August 16th 2018

Gene symbol Gene name Total variants Unique variants Patients
ANKRD1 Ankyrin repeat domain 1 (cardiac muscle) 170 30 153
BAG3 BCL2-associated athanogene 3 22 11 22
CAPN3 Calpain-3 2863 496 1750
CHAT Choline O-acetyltransferase 102 37 59
CHKB Choline kinase beta 37 12 20
COLQ Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 211 59 103
CRYAB Crystallin, alpha-B 95 20 83
DAG1 Dystrophin-Associated Glycoprotein 1 134 29 109
DES Desmin 392 80 361
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 81 6 81
DOK7 Docking protein 7 503 106 286
DYSF Dysferlin 2296 510 1332
EMD Emery-Dreifuss muscular dystrophy (emerin) 219 107 225
FHL1 Four and a Half LIM domains 1 83 23 83
GARS glycyl-tRNA synthetase 107 21 100
GFPT1 Glutamine-fructose-6-phosphate transaminase 1 75 30 38
GJB1 gap junction protein, beta 1, 32kDa 8 1 8
GK Glycerol Kinase 174 33 115
IGHMBP2 Immunoglobulin mu binding protein 2 174 84 69
ITGA7 Integrin, alpha 7 179 40 141
KBTBD13 Kelch repeat and BTB (POZ) domain containing 13 60 9 60
LDB3 LIM domain binding 3 (ZASP) 101 16 82
LMNA Lamin A/C 1512 344 1406
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) 140 22 136
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
PABPN1 PolyA binding protein, nuclear 1 520 23 508
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 55 gene entries 20044 4578 15380