NeuropathySelect Genes and Associated Diseases | April 2019 NeuropathySelect is a 81 gene panel designed for patients experiencing symptoms associated with polyneuropathy but lacking a clear diagnosis. Given the overlap in genetic causes and variability in clinical symptoms and presentation, NeuropathySelect represents an effective way of identifying at-risk individuals, or confirming a diagnosis. Gene Name Associated Disease Gene Name Associated Disease AARS CMT MPZ CMT/DSS AIFM1 Cowchock syndrome MTMR2 CMT APOA1 Amyloidotic neuropathy NDRG1 CMT ATL1 Sensory neuropathy/SPG NEFH CMT ATL3 Sensory neuropathy NEFL CMT ATP7A ATP7A-related distal motor neuropathy/SMA NGF Sensory and autonomic neuropathy BICD2 SMA NTRK1 CIP/Sensory and autonomic neuropathy BSCL2 HMN/SMA/SPG OPTN ALS CHCHD10 ALS PDK3 CMT DCTN1 HMN PLEKHG5 CMT DNAJB2 SMA PMP22 CMT/DSS/HNPP DNM2 CMT PRDM12 Sensory and autonomic neuropathy DNMT1 Sensory neuropathy PRPS1 CMT DST Sensory and autonomic neuropathy PRX CMT/DSS DYNC1H1 CMT/SMA RAB7A CMT EGR2 CMT/DSS REEP1 CMT/HMN/SPG FAM134B (RETREG1) Sensory and autonomic neuropathy SBF2 CMT FBXO38 HMN SCN10A Episodic pain syndrome FGD4 CMT CIP/Episodic pain syndrome/Sensory and SCN11A autonomic neuropathy FIG4 CMT CIP/Erythromelalgia/Sensory and autonomic FUS ALS SCN9A neuropathy GAN Giant axonal neuropathy SETX ALS/Spinocerebellar ataxia GARS CMT/HMN SH3TC2 CMT GDAP1 CMT SIGMAR1 ALS/SMA GJB1 CMT SLC25A46 Motor and sensory neuropathy GNB4 CMT SLC52A2 BVVL/RTD GSN Amyloidosis, Finnish type SLC52A3 BVVL/RTD HARS CMT SLC5A7 Congenital myasthenic syndrome/HMN HINT1 Neuromyotonia and axonal neuropathy SPG11 ALS/CMT/SPG HSPB1 CMT/HMN SPTLC1 Sensory and autonomic neuropathy HSPB8 CMT/HMN SPTLC2 Sensory and autonomic neuropathy IGHMBP2 CMT/HMN TARDBP ALS IKBKAP (ELP1) Familial dysautonomia TFG Sensory and motor neuropathy/SPG INF2 CMT TRPV4 CMT/Motor and sensory neuropathy/SMA KIF1A Sensory neuropathy/SPG TTR hATTR amyloidosis LITAF CMT UBA1 SMA LMNA CMT VAPB ALS LRSAM1 CMT VCP ALS/CMT MARS CMT VRK1 Motor and sensory neuropathy MFN2 CMT/HMN WNK1 (HSN2 isoform) Sensory and autonomic neuropathy MORC2 CMT YARS CMT References available upon request. ALS = Amyotrophic lateral sclerosis, BVVL = Brown Vialetto Van Laere syndrome, CIP = Congenital insensitivity to pain, CMT = Charcot-Marie-Tooth, DSS = Dejerine- Scottas syndrome, HMN = Hereditary Motor Neuropathy, HNRP = Hereditary neuropathy with liability to pressure palsies, RTD = Riboflavin transporter deficiency, SMA = Spinal muscular atrophy, SPG = Spastic paraplegia MKT-0142_v1 | 04.25.19 2019 © Ambry Genetics 15 Argonaut, Aliso Viejo, CA 92656 USA Toll Free +1.866.262.7943 Fax +1.949.900.5501 ambrygen.com.