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Myopathy Genes (HGNC) Neuropathy (HGNC) Neuromuscular Disease

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Myopathy Genes (HGNC) Neuropathy (HGNC) Neuromuscular Disease Myopathy Genes Neuropathy Neuromuscular Disease (HGNC) (HGNC) (HGNC) ABHD5 ABCA1 ADCK3 ACTG2 ACO2 AGRN AGK AGXT ALS2 ALDOA AIFM1 ANG AMER1 ALAD AP4B1 ANO5 AMACR AP4E1 AR AP1S1 AP4M1 AUH APTX AP4S1 B4GALT1 AR AP5Z1 CACNA1S ATL3 ATM CASQ1 B4GALNT1 ATXN10 CCDC78 BAG3 ATXN7 CHCHD10 BRP44L BEAN1 CHRNA1 C12orf65 C9orf72 CHRNB1 C19orf12 CACNB4 CHRND C1NH CAPN3 CHRNE CECR1 CHAT CLPB CISD2 CHKB COL6A1 CLCF1 CHMP2B COL6A2 CLCN2 CHRNG COL6A3 CLP1 CLCN1 COLQ CMT2G COL9A3 CTNS CMT2H COQ2 DGUOK CMTDIA COQ6 DNA2 CMTX2 COQ9 DNAJB6 CMTX3 COX15 DNAJC19 COASY CPT1A DNM2 COX6A1 CYP7B1 DPM2 CPOX DAG1 DYSF CYP27A1 DDHD2 EMD CYP2U1 DOK7 EPG5 DARS2 DPAGT1 FAM111B DCAF8 DPM3 FBXL4 DDHD1 DUX4 FKBP14 DFNX5 ECEL1 FKRP DHTKD1 ERBB3 FLH1 DIAPH3 ERLIN2 FLNC DNAJB2 FA2H HNRNPA1 DNAJC3 FKTN HNRNPDL ELOVL5 FUS HNRPA2B1 ERCC8 G6PC KLHL40 FAH GFPT1 KLHL41 FAM126A GLE1 LAMA2 FBN1 GYS2 LDB3 FMR1 HSPD1 LMOD3 FXN IFRD1 MEGF10 GALC INF2 MGME1 GBE1 ISPD MTAP GJC2 ITGA7 MTMR14 GP1BA ITPR1 MYF6 HADHA KCNA1 MYH14 HADHB KCNC3 MYLK2 HFE KCNE3 NARS2 HINT1 KCNJ18 NEB HK1 KCNJ2 ORAI1 HMBS KIAA0196 PRKAG2 HSD17B4 KIF21A PTEN HSN1B L1CAM RBCK1 IARS2 LAMB2 RET IGHMBP2 LARGE RMND1 KCNJ10 MCCC2 SCN4A KIF5A MRE11A SERAC1 LRSAM1 MRPL3 SGCA LYST MTO1 SIL1 MANBA MTPAP SPEG MARS MTTP STAC3 MTATP6 MUSK STIM1 MYH14 MYBPC3 SYNE1 MYOT MYH3 SYNE2 NAMSD MYH8 TAZ NF2 NF1 TIA1 NGLY1 NIPA1 TMEM43 NMSR NOP56 TNPO3 NOTCH3 OPTN TNXB OPA1 PDSS2 TPM2 OPA3 PDYN TRPV4 OTOF PFN1 UBA1 PDK3 PHKA2 VCP PDSS1 PHKG2 XDH PEX10 PHOX2A ACADS PEX2 PIP5K1C ACADVL PMM2 PLEC ACTA1 PNPLA6 PLP1 AGL PPOX POMGNT1 AMPD1 PRICKLE1 POMGNT2 ATP2A1 PSAP POMT1 BAG3 PTRH2 POMT2 BIN1 RAB7 PTRF C10orf2 RAI1 RAPSN CAV3 RMND1 REEP1 CFL2 RPIA RTN2 CNTN1 SACS SDHAF1 CRYAB SAR1B SGCB DES SBF1 SGCD FHL1 SCN11A SGCE GAA SETX SGCG GNE SH3BP2 SIGMAR1 GYG1 SLC25A19 SLC1A3 HADHA SLC30A10 SLC33A1 HADHB SLC46A1 SMCHD1 ISCU SLC52A2 SMN1 KBTBD13 SLC52A3 SOD1 LAMP2 SLC5A7 SPAST LMNA SNAP29 SPG20 MATR3 SOX10 SPG21 MTM1 SPG11 SPG7 MYH2 SPTLC2 SPTBN2 MYH7 STUB1 TARDBP MYOT SUCLA2 TBP OPA1 SYT2 TCAP OPA3 TFG TECPR2 PGK1 TMEM126A TGM6 PNPLA2 TRIM2 TMEM5 POLG TRPV4 TNNI2 PUS1 TSFM TNNT3 RRM2B TUBB3 TOR1A RYR1 TYMP TTBK2 SEPN1 ZFYVE26 TTPA SLC25A4 AAAS UBQLN2 SUCLA2 AARS VAPB TK2 ABHD12 VPS37A TNNT1 AFG3L2 VRK1 TPM3 ATL1 ZFYVE27 TRIM32 ATXN1 TTN ATXN2 YARS2 ATXN3 ACADM BSCL2 AIFM1 C10orf2 CNBP CACNA1A COX14 CCT5 CPT1B CTDP1 CPT2 DNM2 DMD DNMT1 DMPK DST ENO3 DYNC1H1 ETFA EGR2 ETFB FAM134B ETFDH FGD4 FASTKD2 FGF14 FOXRED1 FIG4 GBE1 GAN GFER GARS GYS1 GDAP1 HRAS GJB1 HSPG2 HSPB1 KLHL9 HSPB3 LDHA HSPB8 LPIN1 IKBKAP MRPS22 KARS MSTN KIF1A NDUFA1 KIF1B NDUFA11 LITAF NDUFAF1 LMNA NDUFAF2 MED25 NDUFAF3 MFN2 NDUFAF4 MPV17 NDUFS1 MPZ NDUFS2 MTMR2 NDUFS4 NDRG1 NDUFS6 NEFL NDUFV1 NGF NDUFV2 NTRK1 PABPN1 PHYH PFKM PLEKHG5 PGAM2 PMP22 PGM1 POLG PHKA1 PPP2R2B POLG2 PRPS1 PYGM PRX SCO2 SBF2 SDHA SCN9A SLC22A5 SEPT9 SLC25A20 SH3TC2 SLC25A3 SLC12A6 SUCLG1 SPTLC1 TK1 TTR TMEM70 WNK1 TSFM YARS TYMP ABCD1 ARHGEF10 ATP7A ATXN8 ATXN8OS AUNX1 DCTN1 DHH FBLN5 FLVCR1 HOXD10 PEX7 PLEKHG4 PRKCG PRNP RAB7A RNF170 SCA18 SCA25 TDP1 Supplemental 2. The updated NCGENES diagnostic lists for myopathy, neuropathy, and neuromuscular disease (NMD). Italicized genes were newly added to the lists from a survey of the literature on the Online Mendelian Inheritance in Man (OMIM) database. Bolded genes were shared between the myopathy and neuropathy lists. Genes were only added if there was at least one patient with a variant in the gene who demonstrated clinical features of a myopathy or neuropathy. As the lists were constructed so that NMDs encompassed all myopathy and neuropathy genes, only those genes that were found to be unique to the NMD list are listed. .
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