Neurogenetische Erkrankungen

Dr. rer. hum. biol. Soheyla Chahrokh-Zadeh, Dr. rer. nat. Karin Mayer, M. Sc. Anna Munzig

Venn-Diagramm zur Panel-Diagnostik

AlzheimerErkrankungCADASILAtaxienChoreatiformeBewegungsstörungenEpilepsienHereditäreNeuropathienHyperekplexieABCB7ADGRG1AFG3L2AHI1AMACRANO10APTXARL13BATCAYATG5ATP1A3ATP8A2ATXN10BTDCA8CACNA1GCAPN1CC2D2ACCDC88CCEP290CEP41CHP1CLN5CLN6COA7COQ8ACPCPLANE1CSPP1CWF19L1CYP27A1DAB1DARS2DLATDNAJC19DNAJC5EEF2EIF2B1EIF2B2EIF2B3EIF2B4EIF2B5ELOVL4ELOVL5FAT1FAT2FGF14FLVCR1GALCGBAGBA2GCLCGDAP2GRID2GRM1INPP5EITPR1KCNC3KCND3KCNJ10KIAA0586KIF1CKIF26BKIF7MARS2MRE11MTPAPNEU1NKX6-2NPC1NPC2NPHP1OFD1OPA3PANK2PDE6DPDHXPDYNPEX10PEX2PIK3R5PLA2G6PLD3PMPCAPNPLA6POC1BPOLR3APPP2R2BPRKCGPUM1RPGRIP1LRUBCNSCYL1SIL1SLC17A5SLC1A3SLC9A1SNX14SPG7SPTBN2STUB1SYNE1SYT14TCTN1TCTN2TCTN3TDP2TGM6TMEM138TMEM216TMEM231TMEM237TMEM240TMEM67TPP1TRPC3TTBK2TTC21BTTPAUBR4VAMP1VLDLRVPS13DVWA3BWDR81WFS1XRCC1ZNF423ADCY5ATN1ATXN1ATXN2ATXN3ATXN7FTLGM2ANKX2-1TBPVPS13AXKADGRV1ACTL6BADAM22ADRA2BALDH7A1ALG13AP3B2ARHGEF15ARV1ATP1A2BRAT1CACNA1ECACNA1HCADCASRCDKL5CERS1CHD2CHRNA2CHRNA4CHRNB2CLCN4CNPY3CNTN2CPA6CPLX1CSTBCYFIPLDENND5ADEPDC5DNM1DOCK7DYRK1AEEF1A2EFHC1EPM2AFGF12FOXG1GABBR2GABRA1GABRA2GABRA5GABRB1GABRB2GABRB3GABRDGABRG2GALGLSGLULGPHNGRIN2AGRIN2BGRIN2DGUF1HCN1HDAC4HNRNPUICKIQSEC2ITPAKCNA2KCNB1KCNC1KCNH5KCNMA1KCNQ2KCNQ3KCNT1KCNT2KCTD7LGI1LMNB2MBD5MDH2MECP2MEF2CNECAP1NEUROD2NHLRC1NIPA2NPRL2NTRK2PARS2PCDH19PHACTR1PIGAPIGBPIGPPIGQPLCB1PLPBPPNPOPPP3CAPRDM8PRICKLE1PRICKLE2PRRT2RANBP2RANGAP1RHOBTB2RNF13ROGDISCARB2SCN1ASCN1BSCN3ASCN8ASIK1SLC12A5SLC13A5SLC1A2SLC25A12SLC25A22SLC2A1SLC35A2SLC6A1SPTAN1SRPX2ST3GAL3STX1BSTXBP1SYNGAP1SYNJ1SZT2TBC1D24YWHAGAIFM1ARHGEF10ATL1ATL3ATP1A1ATP7ABAG3BICD2BSCL2CCT5COX6A1CTDP1DCTN1DGAT2DHTKD1DNAJB2DNM2DYNC1H1EGR2ELP1FBLN5FGD4FIG4GANGARSGDAP1GNB4HARSHINT1HK1HOXD10HSPB1HSPB3HSPB8IGHMBP2INF2KARSKIF1AKIF1BKIF5ALITAFLMNALRSAM1MARSMCM3APMED25MFN2MORC2MPV17 MPZMTMR2NDRG1NEFHNEFLNGFNTRK1PDK3PLEKHG5PMP22PRDM12PRPS1PRXRAB7AREEP1RETREG1SBF1SBF2SCN11ASEPTIN9SH3TC2SIGMAR1SLC12A6SLC5A7SOX10SPG11SPTLC1SPTLC2SURF1SYT2TFGTRIM2TRPV4TTRVCPWNK1YARSATAD1GLRA1GLRBSLC6A5ARHGEF9APPNOTCH3HTRA1PSEN1PSEN2KCNA1FRRS1LGNAO1ARSAATMPDE10APRNPRNF216SETXCACNA1ACACNB4CLCN2GOSR2PNKPSCN2AUBA5WWOXPOLGAARSSCN9AABHD12DNMT1GJB1MMEOPA1SACSTDP1ARXDCXRELNTUBA8TUBBTUBB2ATUBA1ATUBB2BTUBB3TUBG1KATNB1NDE1PAFAH1B1TMTC3AMPD2CHMP1ACLP1COASYEXOSC3EXOSC8SLC25A46EXOSC9PCLORARS2SEPSECSTBC1D23TOE1TSEN15TSEN2TSEN34TSEN54VPS53VRK1TubolinopathienLissenzephalienTBCDpontozerebelläreHypoplasieGehirnfehlbildungenSchematische Darstellung der phänotypischen und genetischen Heterogenität bei neurogenetischenErkrankungen. Die einzelnen Subpanels sind farblich voneinander abgegrenzt.