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Table 1 Genes included and quality of target NGS analysis

From: Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene

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