Table 1 Genes included and quality of target NGS analysis
Name HGNC | Full name | OMIM | Coding sequence length (bases number) | >5x | Coverage% > 10x | >20x | Depth of medium | coverage (x) maximum |
|---|---|---|---|---|---|---|---|---|
Arthrogryposis multiplex congenita | ||||||||
ADCY6 | Adenylate cyclase 6 | 600,294 | 3507 | 100.00 | 100.00 | 100.00 | 380.13 | 832 |
ASCC1 | Activating signal cointegrator 1 complex subunit 1 | 614,215 | 1203 | 100.00 | 100.00 | 99.17 | 172.73 | 423 |
CNTN1 | Contactin 1 | 600,016 | 3024 | 100.00 | 100.00 | 100.00 | 196.61 | 458 |
CNTNAP1 | Contactin associated protein 1 | 602,346 | 4155 | 100.00 | 100.00 | 100.00 | 358.82 | 923 |
DOK7 | Docking protein 7 | 610,285 | 1515 | 100.00 | 99.74 | 97.43 | 331.79 | 736 |
ERGIC1 | Endoplasmic reticulum-golgi intermediate compartment 1 | 617,946 | 873 | 100.00 | 100.00 | 100.00 | 444.82 | 747 |
FKBP10 | FKBP prolyl isomerase 10 | 607,063 | 1749 | 100.00 | 100.00 | 100.00 | 359.79 | 769 |
GLE1 | GLE1 RNA export mediator | 603,371 | 2097 | 100.00 | 100.00 | 100.00 | 194.62 | 387 |
KIF14 | Kinesin family member 14 | 611,279 | 4947 | 100.00 | 100.00 | 100.00 | 167.48 | 323 |
LGI14 | Leucine rich repeat LGI family member 4 | 608,303 | 1614 | 100.00 | 100.00 | 100.00 | 222.95 | 429 |
MUSK | Muscle associated receptor tyrosine kinase | 601,296 | 2610 | 100.00 | 100.00 | 100.00 | 222.38 | 508 |
MYBPC1 | Myosin binding protein C, slow type | 160,794 | 3522 | 100.00 | 100.00 | 100.00 | 183.71 | 581 |
MYOD1 | Myogenic differentiation 1 | 159,970 | 963 | 100.00 | 100.00 | 100.00 | 623.24 | 1438 |
NUP88 | Nucleoporin 88 | 602,552 | 2226 | 100.00 | 100.00 | 100.00 | 206.06 | 482 |
PIEZO2 | Piezo type mechanosensitive ion channel component 2 | 613,629 | 8259 | 100.00 | 100.00 | 99.94 | 191.65 | 677 |
RAPSN | Receptor associated protein of the synapse | 601,592 | 1239 | 100.00 | 100.00 | 100.00 | 419.22 | 935 |
SCARF2 | Scavenger receptor class F member 2 | 613,619 | 2598 | 100.00 | 100.00 | 100.00 | 209.97 | 618 |
SYNE1 | Spectrin repeat containing nuclear envelope protein 1 | 608,441 | 26,394 | 100.00 | 100.00 | 100.00 | 193.42 | 680 |
TRIP4 | Thyroid hormone receptor interactor 4 | 604,501 | 1746 | 100.00 | 100.00 | 100.00 | 140.63 | 238 |
UBA1 | Ubiquitin like modifier activating enzyme 1 | 314,370 | 3177 | 100.00 | 100.00 | 100.00 | 215.59 | 532 |
VIPAS39 | VPS33B late endosome and lysosome associated | 608,552 | 1854 | 100.00 | 100.00 | 100.00 | 218.34 | 597 |
ZC4H2 | Zinc finger C4H2-type containing | 300,897 | 675 | 100.00 | 100.00 | 100.00 | 103.71 | 158 |
Distal arthrogryposis | ||||||||
CHST14 | Carbohydrate sulfotransferase 14 | 608,429 | 1131 | 100.00 | 100.00 | 100.00 | 260.38 | 467 |
DSE | Dermatan sulfate epimerase | 605,942 | 2877 | 100.00 | 100.00 | 100.00 | 206.13 | 547 |
ECEL1 | Endothelin converting enzyme like 1 | 605,896 | 2328 | 100.00 | 100.00 | 98.80 | 248.47 | 929 |
FBN2 | Fibrillin 2 | 612,570 | 8739 | 100.00 | 100.00 | 100.00 | 225.84 | 600 |
MYBPC1 | Myosin binding protein C, slow type | 160,794 | 3522 | 100.00 | 100.00 | 100.00 | 183.71 | 581 |
MYH3 | Myosin heavy chain 3 | 160,720 | 5823 | 100.00 | 100.00 | 100.00 | 211.55 | 551 |
MYH8 | Myosin heavy chain 8 | 160,741 | 5814 | 100.00 | 100.00 | 99.47 | 191.77 | 746 |
NALCN | Sodium leak channel, non-selective | 611,549 | 5217 | 100.00 | 100.00 | 100.00 | 177.57 | 395 |
PIEZO2 | Piezo type mechanosensitive ion channel component 2 | 613,629 | 8259 | 100.00 | 100.00 | 99.94 | 191.65 | 677 |
SLC35A3 | Solute carrier family 35 member A3 | 605,632 | 1104 | 100.00 | 100.00 | 100.00 | 156.35 | 264 |
TNNI2 | Troponin I2, fast skeletal type | 191,043 | 549 | 100.00 | 100.00 | 100.00 | 355.52 | 890 |
TNNT1 | Troponin T1, slow skeletal type | 191,041 | 837 | 100.00 | 100.00 | 100.00 | 196.36 | 370 |
Other genes | ||||||||
ACTA1 | Actin alpha 1, skeletal muscle | 102,610 | 1134 | 100.00 | 100.00 | 100.00 | 250.29 | 714 |
AGRN | Agrin | 103,320 | 6138 | 100.00 | 100.00 | 99.54 | 351.00 | 897 |
BIN1 | Bridging integrator 1 | 601,248 | 1782 | 100.00 | 100.00 | 100.00 | 283.67 | 580 |
CASK | Calcium/calmodulin dependent serine protein kinase | 300,172 | 2766 | 100.00 | 100.00 | 100.00 | 110.05 | 307 |
CFL2 | Cofilin 2 | 601,443 | 501 | 100.00 | 100.00 | 100.00 | 142.68 | 262 |
CHAT | Choline O-acetyltransferase | 118,490 | 2247 | 100.00 | 100.00 | 98.00 | 234.82 | 481 |
CHRNA1 | Cholinergic receptor nicotinic alpha 1 subunit | 100,690 | 1374 | 100.00 | 100.00 | 100.00 | 219.81 | 422 |
CHRNB1 | Cholinergic receptor nicotinic beta 1 subunit | 100,710 | 1506 | 100.00 | 100.00 | 100.00 | 257.88 | 591 |
CHRND | Cholinergic receptor nicotinic delta subunit | 100,720 | 1554 | 100.00 | 100.00 | 100.00 | 326.22 | 666 |
CHRNE | Cholinergic receptor nicotinic epsilon subunit | 100,725 | 1482 | 100.00 | 100.00 | 100.00 | 311.97 | 705 |
CHRNG | Cholinergic receptor nicotinic gamma subunit | 100,730 | 1554 | 100.00 | 100.00 | 100.00 | 309.39 | 644 |
COL6A2 | Collagen type VI alpha 2 chain | 120,240 | 3060 | 100.00 | 100.00 | 100.00 | 380.62 | 701 |
COLQ | Collagen like tail subunit of asymmetric acetylcholinesterase | 603,033 | 1368 | 100.00 | 100.00 | 100.00 | 193.63 | 454 |
DHCR24 | 24-dehydrocholesterol reductase | 606,418 | 1551 | 100.00 | 100.00 | 100.00 | 305.51 | 710 |
DPAGT1 | Dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | 191,350 | 1227 | 100.00 | 100.00 | 100.00 | 209.58 | 349 |
EGR2 | Early growth response 2 | 129,010 | 1431 | 100.00 | 100.00 | 100.00 | 313.71 | 523 |
ERCC5 | ERCC excision repair 5, endonuclease | 133,530 | 3561 | 100.00 | 100.00 | 100.00 | 171.74 | 386 |
ERCC6 | ERCC excision repair 6, chromatin remodeling factor | 609,413 | 4482 | 100.00 | 100.00 | 100.00 | 229.78 | 501 |
EXOSC3 | Exosome component 3 | 606,489 | 828 | 100.00 | 100.00 | 99.88 | 292.51 | 690 |
FHL1 | Four and a half LIM domains 1 | 300,163 | 972 | 100.00 | 100.00 | 98.66 | 96.30 | 207 |
FKTN | Fukutin | 607,440 | 1386 | 100.00 | 100.00 | 100.00 | 198.58 | 376 |
GBA | Glucosylceramidase beta | 606,463 | 1611 | 100.00 | 100.00 | 100.00 | 602.97 | 1174 |
GBE1 | 1,4-alpha-glucan branching enzyme 1 | 607,839 | 2109 | 100.00 | 100.00 | 100.00 | 204.50 | 501 |
GFPT1 | Glutamine-fructose-6-phosphate transaminase 1 | 138,292 | 2100 | 100.00 | 100.00 | 100.00 | 162.87 | 429 |
GLDN | Gliomedin | 608,603 | 1656 | 100.00 | 100.00 | 100.00 | 157.95 | 407 |
KAT6B | Lysine acetyltransferase 6B | 605,880 | 6222 | 100.00 | 100.00 | 100.00 | 276.88 | 1144 |
KLHL40 | Kelch like family member 40 | 615,340 | 1866 | 100.00 | 100.00 | 100.00 | 307.58 | 611 |
MPZ | Myelin protein zero | 159,440 | 747 | 100.00 | 100.00 | 100.00 | 293.78 | 823 |
MTM1 | Myotubularin 1 | 300,415 | 1812 | 100.00 | 100.00 | 100.00 | 111.02 | 238 |
MYH2 | Myosin heavy chain 2 | 160,740 | 5826 | 100.00 | 100.00 | 100.00 | 200.07 | 480 |
NEB | Nebulin | 161,650 | 19,974 | 100.00 | 100.00 | 100.00 | 193.18 | 564 |
PLOD2 | Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | 601,865 | 2277 | 100.00 | 100.00 | 100.00 | 166.51 | 435 |
PMM2 | Phosphomannomutase 2 | 601,785 | 741 | 100.00 | 100.00 | 100.00 | 202.86 | 369 |
RARS2 | Arginyl-tRNA synthetase 2, mitochondrial | 611,524 | 1737 | 100.00 | 100.00 | 100.00 | 164.02 | 377 |
SCO2 | SCO cytochrome c oxidase assembly protein 2 | 604,272 | 801 | 100.00 | 100.00 | 100.00 | 325.72 | 627 |
TGFB3 | Transforming growth factor beta 3 | 190,230 | 1239 | 100.00 | 100.00 | 100.00 | 280.94 | 449 |
TK2 | Thymidine kinase 2 | 188,250 | 798 | 100.00 | 100.00 | 99.25 | 212.26 | 474 |
TNNT3 | Troponin T3, fast skeletal type | 600,692 | 771 | 100.00 | 100.00 | 100.00 | 286.03 | 564 |
TPM3 | Tropomyosin 3 | 191,030 | 858 | 100.00 | 100.00 | 100.00 | 181.98 | 368 |
TRPV4 | Transient receptor potential cation channel subfamily V member 4 | 605,427 | 2616 | 100.00 | 100.00 | 100.00 | 308.90 | 554 |
TSEN2 | tRNA splicing endonuclease subunit 2 | 608,753 | 1398 | 100.00 | 100.00 | 100.00 | 223.97 | 579 |
TSEN54 | tRNA splicing endonuclease subunit 54 | 608,755 | 1581 | 100.00 | 99.11 | 97.28 | 273.41 | 462 |
VRK1 | VRK serine/threonine kinase 1 | 602,168 | 1191 | 100.00 | 100.00 | 100.00 | 177.52 | 298 |
ZBTB42 | Zinc finger and BTB domain containing 42 | 613,915 | 1269 | 100.00 | 100.00 | 100.00 | 372.32 | 655 |
Digital synostosis | ||||||||
BHLHA9 | Basic helix-loop-helix family member a9 | 615,416 | 708 | 100.00 | 89.27 | 81.50 | 135.39 | 384 |
BMPR1B | Bone morphogenetic protein receptor type 1B | 603,248 | 1599 | 100.00 | 100.00 | 100.00 | 210.72 | 332 |
CHSY1 | Chondroitin sulfate synthase 1 | 608,183 | 2409 | 100.00 | 99.63 | 98.13 | 215.28 | 398 |
FGF9 | Fibroblast growth factor 9 | 600,921 | 627 | 100.00 | 100.00 | 100.00 | 187.26 | 287 |
GDF5 | Growth differentiation factor 5 | 601,146 | 1506 | 100.00 | 100.00 | 100.00 | 364.68 | 699 |
GDF6 | Growth differentiation factor 6 | 601,147 | 1368 | 100.00 | 100.00 | 100.00 | 262.93 | 704 |
IHH | Indian hedgehog signaling molecule | 600,726 | 1236 | 100.00 | 100.00 | 100.00 | 303.92 | 420 |
NOG | Noggin | 602,991 | 699 | 100.00 | 100.00 | 100.00 | 416.59 | 809 |
PCNT | Pericentrin | 605,925 | 10,011 | 100.00 | 100.00 | 99.91 | 207.88 | 569 |
PTDSS1 | Phosphatidylserine synthase 1 | 612,792 | 1422 | 100.00 | 100.00 | 100.00 | 197.51 | 399vements restriction |