LOVD - Current system status

2017/06/26 16:04:05 CEST - Monday, June 26th 2017

Gene symbol Gene name Total variants Unique variants Patients
ACTA1 ACTin, Alpha 1 (skeletal muscle) 412 246 382
ANKRD1 Ankyrin repeat domain 1 (cardiac muscle) 170 30 153
B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 26 2 10
BAG3 BCL2-associated athanogene 3 22 11 22
BANF1 Barrier to autointegration factor 1 38 5 9
BIN1 Bridging INtegrator 1 70 38 13
CAPN3 Calpain-3 2864 496 1751
CAV3 Caveolin-3 467 70 436
CFL2 Cofilin 2 44 13 30
CHAT Choline O-acetyltransferase 102 37 59
CHKB Choline kinase beta 37 12 20
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) 209 14 182
CHRNB1 Cholinergic receptor, nicotinic, beta 1 (muscle) 199 18 171
CHRND Cholinergic receptor, nicotinic, delta 195 21 170
CHRNE Cholinergic receptor, nicotinic, epsilon 422 80 249
CNTN1 Contactin 1 8 1 4
COL6A1 Collagen type VI alpha 1 370 181 330
COL6A2 Collagen type VI alpha 2 358 175 215
COL6A3 Collagen type VI alpha 3 413 182 222
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
DMD Duchenne Muscular Dystrophy 25830 2955 24505
DMD_d Duchenne Muscular Dystrophy (whole exon changes) 10116 1441 9755
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 81 6 81
DOK7 Docking protein 7 503 106 286
DPM3 Dolichyl-Phosphate Mannosyltransferase polypeptide 3 5 3 3
DTNA Dystrobrevin alpha 1 1 1
DYSF Dysferlin 2296 510 1332
EGR2 early growth response 2 0 0 0
EMD Emery-Dreifuss muscular dystrophy (emerin) 223 107 228
FAM134B family with sequence similarity 134, member B 0 0 0
FGD4 FYVE, RhoGEF and PH domain containing 4 0 0 0
FHL1 Four and a Half LIM domains 1 83 23 83
FIG4 FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 0 0 0
FKRP Fukutin-Related Protein 1017 155 522
FKTN Fukutin 577 68 360
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 2 172 82 69
ISCU Iron-Sulfur cluster scaffold homolog (E. coli) 72 2 38
ITGA7 Integrin, alpha 7 179 40 141
KBTBD13 Kelch repeat and BTB (POZ) domain containing 13 60 9 60
LARGE LARGE like-glycosyltransferase 63 46 49
LDB3 LIM domain binding 3 (ZASP) 101 16 82
LITAF lipopolysaccharide-induced TNF factor 0 0 0
LMNA Lamin A/C 4054 347 1504
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
MTMR2 myotubularin related protein 2 0 0 0
MUSK muscle, skeletal, receptor tyrosine kinase 191 18 154
MYBPC3 Myosin binding protein C, cardiac 966 415 919
MYH7 myosin, heavy chain 7, cardiac muscle, beta 535 388 498
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 497 270 263
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
POMGNT1 Protein O-linked Mannose beta1,2-N-acetylGlucosaminylTransferase 244 74 137
POMT1 Protein O-Mannosyltransferase 1 396 128 213
POMT2 Protein O-Mannosyltransferase 2 160 84 98
PRPS1 phosphoribosyl pyrophosphate synthetase 1 0 0 0
PRX periaxin 0 0 0
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
SBF2 SET binding factor 2 0 0 0
SGCA Sarcoglycan-alpha 781 123 504
SGCB Sarcoglycan-beta 372 86 262
SGCD Sarcoglycan-delta 537 42 417
SGCE Sarcoglycan-epsilon 323 59 323
SGCG Sarcoglycan-gamma 1003 112 704
SGCZ Sarcoglycan-zeta 16 14 56
SH3TC2 SH3 domain and tetratricopeptide repeats 2 0 0 0
SMN1 Survival Motor Neuron 1 583 59 301
SPTLC1 serine palmitoyltransferase, long chain base subunit 1 0 0 0
SPTLC2 serine palmitoyltransferase, long chain base subunit 2 0 0 0
TCAP Titin-cap (telethonin) 81 31 60
TNNI2 Troponin I type 2 61 9 56
TNNI3 Troponin I type 3 (cardiac) 547 78 498
TNNT1 Troponin T type 1 32 13 15
TNNT2 Troponin T type 2 (cardiac) 1145 79 1127
TNNT3 Troponin T type 3 17 10 11
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
TRAPPC11 Trafficking protein particle complex 11 8 2 4
TRDN Triadin 12 3 9
TRIM32 Tripartite motif-containing 32 127 19 73
VCP Valosin-containing protein 163 11 163
VMA21 VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) 49 6 49
WNK1 WNK lysine deficient protein kinase 1 0 0 0
ZMPSTE24 Zinc MetalloPeptidase (STE24 homolog, yeast) 1745 54 291
  Total of 110 gene entries 71883 11361 58007