Supplementary Table 2. List of the Genes Implicated in Known Gld and Early Onset Hereditary Spastic Paraplegia Tested in Our Series

Home , AARS2, Adar, PEX26, Ribonuclease T2, RNASEH2A, RNASEH2C

Supplementary Table 2. List of the genes implicated in known gLD and early onset hereditary spastic paraplegia tested in our series

Gene Gene Name Synonyms TSCA Panel SureSelect Symbol Panel AARS alanyl-tRNA synthetase x AARS2 alanyl-tRNA synthetase 2 KIAA1270, x bA444E17.1 ABCD1 ATP-binding cassette, sub-family AMN, ALDP, x D (ALD), member 1 adrenoleukodystrophy ACOX1 acyl-CoA oxidase 1, palmitoyl PALMCOX x ADAR adenosine deaminase, RNA- ADAR1 x x specific AIMP1 aminoacyl tRNA synthetase EMAPII, EMAP-2, p43 x complex-interacting multifunctional protein 1 ALDH3A2 aldehyde dehydrogenase 3 family, FALDH x x member A2 ALS2 amyotrophic lateral sclerosis 2 x (juvenile) AMACR alpha-methylacyl-CoA racemase RACE x AMPD2 adenosine monophosphate SPG63 x deaminase 2 AP4B1 adaptor-related protein complex BETA-4 x 4, beta 1 subunit AP4E1 adaptor-related protein complex AP-4-, EPSILON, SPG51 x 4, epsilon 1 subunit

AP4M1 adaptor-related protein complex MU-ARP2, MU-4, x 4, mu 1 subunit SPG50

AP4S1 adaptor-related protein complex CLA20, AP47B, SPG52 x 4, sigma 1 subunit

AP5Z1 adaptor-related protein complex SPG48, zeta x 5, zeta 1 subunit

ARL6IP1 ADP-ribosylation factor-like 6 AIP1, ARMER, x interacting protein 1 KIAA0069, SPG61 ARSA arylsulfatase A x ARSI arylsulfatase family, member I FLJ16069, SPG66 x ASPA aspartoacylase ASP, ACY2 x ATL1 atlastin GTPase 1 FSP1, AD-FSP x BICD2 bicaudal D homolog 2 (Drosophila) KIAA0699 x CARS cysteinyl-tRNA synthetase CARS1 x CARS2 cysteinyl-tRNA synthetase 2, FLJ12118 x mitochondrial (putative) CD59 CD59 molecule, complement 16.3A5, EJ16, EJ30, x regulatory protein EL32, G344, p18-20 CLCN2 chloride channel, voltage-sensitive CLC2, EJM6, ClC-2 x 2 CNTNAP1 contactin associated protein 1 p190, Caspr, CNTNAP x CRCP CGRP receptor component CGRP-RCP, RCP, RCP9 x CSF1R colony stimulating factor 1 C-FMS, CSFR, CD115 x receptor CTC1 CTS telomere maintenance FLJ22170, AAF132 x complex component 1 CYP27A1 cytochrome P450, family 27, CTX, CP27 x subfamily A, polypeptide 1 CYP7B1 cytochrome P450, family 7, x subfamily B, polypeptide 1 DARS aspartyl-tRNA synthetase x x DARS2 aspartyl-tRNA synthetase 2, FLJ10514 x x mitochondrial DDHD2 DDHD domain containing 2 KIAA0725, SPG54 x EARS2 glutamyl-tRNA synthetase 2, KIAA1970, MSE1 x x mitochondrial EIF2B1 eukaryotic translation initiation EIF-2Balpha, EIF-2B, x x factor 2B, subunit 1 alpha, 26kDa EIF2BA EIF2B2 eukaryotic translation initiation EIF2B, EIF-2Bbeta x x factor 2B, subunit 2 beta, 39kDa EIF2B3 eukaryotic translation initiation EIF2Bgamma, EIF-2B x x factor 2B, subunit 3 gamma, 58kDa EIF2B4 eukaryotic translation initiation EIF2Bdelta, EIF-2B, x x factor 2B, subunit 4 delta, 67kDa DKFZP586J0119, EIF2B EIF2B5 eukaryotic translation initiation EIF2Bepsilon, EIF-2B x x factor 2B, subunit 5 epsilon, 82kDa ERLIN1 ER lipid raft associated 1 KE04, Erlin-1, SPG62 x ERLIN2 ER lipid raft associated 2 NET32, SPG18 x FA2H fatty acid 2-hydroxylase FAAH, FLJ25287 x FAM126A family with sequence similarity DRCTNNB1A, HCC, x x 126, member A HYCC1, hyccin FARS2 phenylalanyl-tRNA synthetase 2, dJ236A3.1 x mitochondrial FKRP fukutin related protein LGMD2I, MDC1C x FKTN fukutin LGMD2M x FLRT1 fibronectin leucine rich MGC21624, SPG68 x transmembrane protein 1 FUCA1 fucosidase, alpha-L- 1, tissue x GALC galactosylceramidase x GARS glycyl-tRNA synthetase GlyRS, DSMAV, x SMAD1 x GBE1 glucan (1,4-alpha-), branching x enzyme 1 GFAP glial fibrillary acidic protein FLJ45472 x x GJA1 gap junction protein, alpha 1, CX43, ODD, ODOD, x 43kDa SDTY3 GJC2 gap junction protein, gamma 2, CX47, GJA12, CX46.6, x x 47kDa SPG44 HARS histidyl-tRNA synthetase x HARS2 histidyl-tRNA synthetase 2, HO3, HARSR x mitochondrial HEPACAM hepatic and glial cell adhesion FLJ25530, hepaCAM, x x molecule GLIALCAM HMGCL 3-hydroxymethyl-3- HL x methylglutaryl- CoA lyase HSD17B4 hydroxysteroid (17-beta) MFE-2, DBP, SDR8C1 x dehydrogenase 4 HSPD1 heat shock 60kDa protein 1 GroEL, HSP60 x (chaperonin) HTRA1 HtrA serine peptidase 1 HtrA, IGFBP5- x protease, ARMD7 IARS2 isoleucyl-tRNA synthetase 2, FLJ10326 x mitochondrial

IFIH1 interferon induced with helicase C MDA-5, Hlcd, MDA5, x domain 1 IDDM19 KARS lysyl-tRNA synthetase KARS2, KARS1 x KIAA0196 KIAA0196 x KIF1C kinesin family member 1C SPAX2, SPG58 x L2HGDH L-2-hydroxyglutarate FLJ12618 x dehydrogenase LAMA2 laminin, alpha 2 x LARGE like-glycosyltransferase KIAA0609 x LARS leucyl-tRNA synthetase HSPC192, FLJ10595, x FLJ21788, LARS1, LEUS, RNTLS LARS2 leucyl-tRNA synthetase 2, KIAA0028, LEURS, x mitochondrial MGC26121 LMNB1 lamin B1 x MAG myelin associated glycoprotein SIGLEC4A, SIGLEC-4A, x S-MAG MARS methionyl-tRNA synthetase MetRS, SPG70 x MCOLN1 mucolipin 1 TRPML1, ML4, MLIV, x MST080, MSTP080, TRPM-L1 MLC1 megalencephalic MLC, KIAA0027, LVM, x x leukoencephalopathy with VL subcortical cysts 1 NARS asparaginyl-tRNA synthetase NARS1 x NARS2 asparaginyl-tRNA synthetase 2, FLJ23441, SLM5 x mitochondrial (putative) NT5C2 5'-nucleotidase, cytosolic II GMP, cN-II, SPG65 x PNT5, PARS2 prolyl-tRNA synthetase 2, DKFZp727A071 x mitochondrial (putative) PEX1 peroxisomal biogenesis factor 1 PEX10 peroxisomal biogenesis factor 10 RNF69 x PEX12 peroxisomal biogenesis factor 12 x PEX2 peroxisomal biogenesis factor 2 PMP35, PAF-1, RNF72, x ZWS3 PEX26 peroxisomal biogenesis factor 26 FLJ20695 x PEX6 peroxisomal biogenesis factor 6 PXAAA1, PAF-2 x PGAP1 post-GPI attachment to proteins 1 FLJ12377, Bst1, SPG67 x PLP1 proteolipid protein 1 GPM6C x x POLR1C polymerase (RNA) I polypeptide RPA40, RPA39, RPA5, x C,30kDa RPAC1 POLR3A polymerase (RNA) III (DNA RPC1, RPC155, x x directed) polypeptide A, 155kDa hRPC155 POLR3B polymerase (RNA) III (DNA RPC2, FLJ10388 x x directed) polypeptide B POMGNT1 protein O-linked mannose FLJ20277, MGAT1.2, x Nacetylglucosaminyltransferase LGMD2O 1 (beta 1,2-) POMT1 protein-O-mannosyltransferase 1 LGMD2K x POMT2 protein-O-mannosyltransferase 2 LGMD2N x PSAP prosaposin x QARS glutaminyl-tRNA synthetase QDPR quinoid dihydropteridine DHPR, PKU2, SDR33C1 x reductase RAB3GAP2 RAB3 GTPase activating protein RAB3-GAP150, x subunit 2 (non-catalytic) KIAA0839, DKFZP434D245, SPG69 RARS arginyl-tRNA synthetase DALRD1 x RARS2 arginyl-tRNA synthetase 2, MGC14993, x mitochondrial MGC23778, PRO1992, dJ382I10.6, DALRD2 REEP2 receptor accessory protein 2 SGC32445, SPG72 x RNASEH2A ribonuclease H2, subunit A RNASEHI, RNHIA, x x RNHL, AGS4 RNASEH2B ribonuclease H2, subunit B FLJ11712 x x

RNASEH2C ribonuclease H2, subunit C AYP1, AGS3 x x RNASET2 ribonuclease T2 RNASE6PL, FLJ10907, x bA514O12.3 SAMHD1 SAM domain and HD domain 1 SBBI88, Mg11, x x HDDC1, MOP-5, AGS5 SARS seryl-tRNA synthetase SERS x SARS2 seryl-tRNA synthetase 2, FLJ20450, mtSerRS, x mitochondrial SerRSmt, SARS, SERS, SYS SCP2 sterol carrier protein 2 x SLC16A2 solute carrier family 16, member 2 XPCT, MCT8, MCT7 x x (thyroid hormone transporter) SLC17A5 solute carrier family 17 (acidic AST, SD, ISSD, NSD, x sugar transporter), member 5 SIALIN, SLD SOX10 SRY (sex determining region Y)- DOM, WS4, WS2E x box 10 SPAST spastin FSP2, ADPSP, x KIAA1083 SPG11 spastic paraplegia 11 (autosomal FLJ21439 x recessive) SPG20 spastic paraplegia 20 (Troyer KIAA0610, TAHCCP1 x syndrome) SPG21 spastic paraplegia 21 (autosomal ACP33, GL010, BM- x recessive, Mast syndrome) 019, MAST SPTAN1 spectrin, alpha, non-erythrocytic 1 x TARS threonyl-tRNA synthetase x TARS2 threonyl-tRNA synthetase 2, FLJ12528 x mitochondrial (putative) TREM2 triggering receptor expressed on TREM-2, Trem2a, x myeloid cells 2 Trem2b, Trem2c TREX1 three prime repair exonuclease 1 DRN3 x x TUBB4A tubulin, beta 4A class IVa beta-5 x x TYROBP TYRO protein tyrosine kinase DAP12, PLO-SL, KARAP x binding protein USP8 ubiquitin specific peptidase 8 HumORF8, KIAA0055, x UBPY, SPG59 VARS2 valyl-tRNA synthetase 2, DKFZP434L1435, x mitochondrial KIAA1885, G7a YARS tyrosyl-tRNA synthetase YTS, YRS, tyrRS x YARS2 tyrosyl-tRNA synthetase 2, FLJ13995, CGI-04, mt- x mitochondrial TyrRS ZFR zinc finger RNA binding protein ZFR1, SPG71 x ZFYVE26 zinc finger, FYVE domain SPG15, KIAA0321 x containing 26