Neurogenetik
Neurogenetik - große Panels
Ataxie, gesamt (80 Gene) | |||
Gen | Omim-Nr. | Gen | Omim-Nr. |
ABCB7 | 300135 | MTPAP | 613669 |
ABHD12 | 613599 | NEU1 | 608272 |
ADCK3 | 606980 | NOP56 | 614154 |
AFG3L2 | 604581 | NPC1 | 607623 |
ALG6 | 604566 | NPC2 | 601015 |
ANO10 | 613726 | OPHN1 | 300127 |
APTX | 606350 | PDHX | 608769 |
ATCAY | 608179 | PDYN | 131340 |
ATM | 607585 | PHYH | 602026 |
ATN1 | 607462 | PLA2G6 | 603604 |
ATP7B | 606882 | PLEKHG4 | 609526 |
ATXN1 | 601556 | PMM2 | 601785 |
ATXN2 | 601517 | POLG | 174763 |
ATXN3 | 607047 | PPP2R2B | 604325 |
ATXN7 | 607640 | PRKCG | 176980 |
ATXN10 | 611150 | RARS2 | 611524 |
BEAN1 | 612051 | RNF170 | 614649 |
BTD | 609019 | SACS | 604490 |
CA8 | 114815 | SETX | 608465 |
CACNA1A | 601011 | SIL1 | 608005 |
CAMTA1 | 611501 | SLC1A3 | 600111 |
CHMP1A | 164010 | SLC17A5 | 604322 |
CP | 117700 | SPR | 182125 |
CYP27A1 | 606530 | SPTBN2 | 604985 |
DARS2 | 610956 | SYNE1 | 608441 |
DLAT | 608770 | SYT14 | 610949 |
DNAJC19 | 608977 | TBP | 600075 |
DNMT1 | 126375 | TDP1 | 607198 |
EXOSC3 | 606489 | TGM6 | 613900 |
FGF14 | 601515 | TMEM67 | 609884 |
FLVCR1 | 609144 | TMEM216 | 613277 |
FXN | 606829 | TSEN2 | 608753 |
GALC | 606890 | TSEN34 | 608754 |
GCLC | 606857 | TSEN54 | 608755 |
GRM1 | 604473 | TTBK2 | 611695 |
ITPR1 | 147265 | TTPA | 600415 |
KCNA1 | 176260 | VLDLR | 192977 |
KCNC3 | 176264 | VRK1 | 602168 |
KCNJ10 | 602208 | WFS1 | 606201 |
MRE11A | 600814 | WWOX | 605131 |
Epileptische Enzephalopathie, frühkindliche (62 Gene) | |||
Gen | OMIM-Nr. | Gen | OMIM-Nr. |
ALDH7A1 | 107323 | KCNQ3 | 602232 |
ALG13 | 300776 | LGI1 | 604619 |
ARHGEF9 | 300429 | MBD5 | 611472 |
ARX | 300382 | MECP2 | 300005 |
ATRX | 300032 | MEF2C | 600662 |
CACNA1A | 601011 | MOCS2 | 603708 |
CACNB4 | 601949 | NRXN1 | 600565 |
CASR | 601199 | PHF6 | 300414 |
CDKL5 | 300203 | PLCB1 | 607120 |
CHD2 | 602119 | PNPO | 603287 |
CHRNA2 | 118502 | POLG | 174763 |
CHRNA4 | 118504 | ROGDI | 614574 |
CHRNB2 | 118507 | RYR3 | 180903 |
CLCN2 | 600570 | SAMHD1 | 606754 |
CNTNAP2 | 604569 | SCN1A | 182389 |
DOCK7 | 615730 | SCN1B | 600235 |
EFHC1 | 608815 | SCN2A | 182390 |
EHMT1 | 607001 | SCN8A | 600702 |
FASN | 600212 | SCN9A | 603415 |
FOXG1 | 164874 | SLC2A1 | 138140 |
GABRA1 | 137160 | SLC6A1 | 137165 |
GABRB3 | 137192 | SLC9A6 | 300231 |
GABRD | 137163 | SLC25A22 | 609302 |
GABRG2 | 137164 | ST3GAL3 | 606494 |
GAMT | 601240 | STXBP1 | 602926 |
GPHN | 603930 | SYNGAP1 | 603384 |
GRIN2A | 138253 | TBC1D24 | 613577 |
GRIN2B | 138252 | TCF4 | 602272 |
KCNA1 | 176260 | UBE3A | 601623 |
KCNJ10 | 602208 | WWOX | 605131 |
KCNQ2 | 602235 | ZEB2 | 605802 |
Hereditäre spastische Paraplegie (HSP) (56 Gene) | |||
Gen | OMIM-Nr. | Gen | OMIM-Nr. |
ABCB7 | 300135 | NDUFV1 | 161015 |
ABCD1 | 300371 | NIPA1 | 608145 |
ALS2 | 606352 | OPA1 | 605290 |
ANG | 105850 | OPA3 | 605580 |
AP4E1 | 607244 | PANK2 | 606157 |
AP4M1 | 602296 | PLA2G6 | 603604 |
AP4S1 | 607243 | PLP1 | 300401 |
AP5Z1 | 613653 | PNPLA6 | 603197 |
ATL1 | 606439 | REEP1 | 609139 |
C12orf65 | 613541 | RPIA | 180430 |
CCT5 | 610150 | RTN2 | 603183 |
CYP7B1 | 603711 | SACS | 604490 |
CYP27A1 | 606530 | SETX | 608465 |
ERLIN2 | 611605 | SIL1 | 608005 |
FA2H | 611026 | SLC16A2 | 300095 |
FIG4 | 609390 | SLC33A1 | 603690 |
FUS | 137070 | SOD1 | 147450 |
GALC | 606890 | SPAST | 604277 |
GBA | 606463 | SPG7 | 602783 |
GCH1 | 600225 | SPG11 | 610844 |
GFAP | 137780 | SPG20 | 607111 |
GJC2 | 608803 | SPG21 | 608181 |
GLB1 | 611458 | SPR | 182125 |
HEXA | 606869 | TARDBP | 605078 |
HSPD1 | 118190 | TH | 191290 |
KIF1A | 601255 | VAPB | 605704 |
KIF5A | 602821 | ZFYVE26 | 612012 |
L1CAM | 308840 | ZFYVE27 | 610243 |
Mitochondriale Erkrankungen (nukleär kodiert)Mitochondriale Enzephalopathie (120 Gene) | |||
Gen | OMIM-Nr. | Gen | OMIM-Nr. |
AARS2 | 612035 | NDUFS1 | 157655 |
ACAD9 | 611103 | NDUFS2 | 602985 |
ACO2 | 100850 | NDUFS3 | 603846 |
ADCK3 | 606980 | NDUFS4 | 602694 |
AGK | 610345 | NDUFS6 | 603848 |
AIFM1 | 300169 | NDUFS7 | 601825 |
ATP5E | 606153 | NDUFS8 | 602141 |
ATPAF2 | 608918 | NDUFV1 | 161015 |
AUH | 600529 | NDUFV2 | 600532 |
BCS1L | 603647 | NFU1 | 608100 |
BOLA3 | 613183 | NUBPL | 613621 |
C10orf2 / TWNK | 606075 | OPA1 | 605290 |
COQ2 | 609825 | PANK2 | 606157 |
COQ6 | 614647 | PC | 608786 |
COQ9 | 612837 | PDHA1 | 300502 |
COX10 | 602125 | PDHB | 179060 |
COX14 | 614478 | PDHX | 608769 |
COX15 | 603646 | PDP1 | 605993 |
COX6B1 | 124089 | PDSS1 | 607429 |
CPS1 | 608307 | PDSS2 | 610564 |
DARS2 | 610956 | POLG | 174763 |
DBT | 248610 | PUS1 | 608109 |
DGUOK | 601465 | RRM2B | 604712 |
DLAT | 608770 | SARS2 | 612804 |
DLD | 238331 | SCO1 | 603644 |
DNAJC19 | 608977 | SCO2 | 604272 |
DNM1L | 603850 | SDHA | 600857 |
EARS2 | 612799 | SDHAF1 | 612848 |
ETFA | 608053 | SDHAF2 | 613019 |
ETFB | 130410 | SDHC | 602413 |
ETFDH | 231675 | SDHD | 602690 |
ETHE1 | 608451 | SLC19A2 | 603941 |
FARS2 | 611592 | SLC19A3 | 606152 |
FASTKD2 | 612322 | SLC22A5 | 603377 |
FOXRED1 | 613622 | SLC25A3 | 600370 |
GARS | 600287 | SLC25A4 | 103220 |
GFAP | 137780 | SLC25A12 | 603667 |
GFER | 600924 | SLC25A20 | 613689 |
GFM1 | 606639 | SLC25A22 | 609302 |
HADHA | 600890 | SLC33A1 | 603690 |
HADHB | 143450 | SPG7 | 602783 |
LRPPRC | 607544 | STXBP1 | 602926 |
MPV17 | 137960 | SUCLA2 | 603921 |
MRPL3 | 607118 | SUCLG1 | 611224 |
MRPS22 | 605810 | SURF1 | 185620 |
MTFMT | 611766 | TAZ | 300394 |
MTO1 | 614667 | TIMM8A | 300356 |
NDUFA1 | 300078 | TK2 | 188250 |
NDUFA2 | 602137 | TMEM70 | 612418 |
NDUFA9 | 603834 | TPK1 | 606370 |
NDUFA10 | 603835 | TRMU | 610230 |
NDUFA11 | 612638 | TSFM | 604723 |
NDUFAF1 | 606934 | TTC19 | 613814 |
NDUFAF2 | 609653 | TUFM | 602389 |
NDUFAF3 | 612911 | TYMP | 131222 |
NDUFAF4 | 611776 | UQCRB | 191330 |
NDUFAF5 | 612360 | UQCRQ | 612080 |
NDUFAF6 | 612392 | WFS1 | 606201 |
NDUFB3 | 603839 | YARS2 | 610957 |
Leigh-Syndrom (49 Gene) | |||
Gen | OMIM-Nr. | Gen | OMIM-Nr. |
AARS2 | 612035 | NDUFS2 | 602985 |
ACAD9 | 611103 | NDUFS3 | 603846 |
ADCK3 | 606980 | NDUFS4 | 602694 |
BCS1L | 603647 | NDUFS7 | 601825 |
C10orf2 / TWNK | 606075 | NDUFS8 | 602141 |
COQ2 | 609825 | NDUFV1 | 161015 |
COQ6 | 614647 | PDHA1 | 300502 |
COQ9 | 612837 | PDSS1 | 607429 |
COX10 | 602125 | PDSS2 | 610564 |
COX15 | 603646 | POLG | 174763 |
DGUOK | 601465 | RRM2B | 604712 |
EARS2 | 612799 | SCO1 | 603644 |
ETHE1 | 608451 | SCO2 | 604272 |
FOXRED1 | 613622 | SDHA | 600857 |
GFM1 | 606639 | SERAC1 | 614725 |
LRPPRC | 607544 | SLC19A3 | 606152 |
MPV17 | 137960 | SUCLA2 | 603921 |
MTFMT | 611766 | SUCLG1 | 611224 |
NDUFA1 | 300078 | SURF1 | 185620 |
NDUFA2 | 602137 | TK2 | 188250 |
NDUFA9 | 603834 | TMEM70 | 612418 |
NDUFA10 | 603835 | TRMU | 610230 |
NDUFAF2 | 609653 | TSFM | 604723 |
NDUFAF5 | 612360 | UQCRB | 191330 |
NDUFAF6 | 612392 |
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Myopathien / MuskeldystrophienGliedergürtelmuskeldystrophienGliedergürtelmuskeldystrophien (nicht DMD-ass.) / Emery-Dreifuss-Muskeldystrophie (35 Gene) | |||
Gen | OMIM-Nr. | Gen | OMIM-Nr. |
ANO5 | 608622 | PLEC | 601282 |
CAPN3 | 114240 | POMGNT1 | 606822 |
CAV3 | 601253 | POMK | 615247 |
DAG1 | 128239 | POMT1 | 607423 |
DES | 125660 | POMT2 | 607439 |
DNAJB6 | 611332 | SGCA | 600119 |
DYSF | 603009 | SGCB | 600900 |
EMD | 300384 | SGCD | 601411 |
FHL1 | 301163 | SGCG | 608896 |
FKRP | 606596 | SYNE1 | 608441 |
FKTN | 607440 | SYNE2 | 608442 |
GAA | 606800 | TCAP | 604448 |
GMPPB | 615320 | TMEM43 | 612048 |
HNRNPDL | 607137 | TNPO3 | 610032 |
ISPD | 614631 | TRAPPC11 | 614138 |
LMNA | 150330 | TRIM32 | 602290 |
LIMS2 | 607908 | TTN | 188840 |
MYOT | 604103 |
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Distale Myopathie (18 Gene) | |||
Gen | OMIM-Nr. | Gen | OMIM-Nr. |
ANO5 | 608622 | GNE | 603824 |
BAG3 | 603883 | LDB3 | 605906 |
CAV3 | 601253 | MATR3 | 164015 |
CRYAB | 123590 | MYH7 | 166760 |
DES | 125660 | MYOT | 604103 |
DNAJB6 | 611332 | SQSTM1 | 601530 |
DYSF | 603009 | TIA1 | 603518 |
FHL1 | 301163 | TTN | 188840 |
FLNC | 102565 | VCP | 601023 |
Muskeldystrophien / Myopathien kongenitalDystroglykanopathien / Muskeldystrophien, Kollagen-assoziierte und sonstige (22 Gene) | |||
Gen | OMIM-Nr. | Gen | OMIM-Nr. |
B3GALNT2 | 610184 | ISPD | 614631 |
B3GNT1 | 601517 | ITGA7 | 600536 |
CHKB | 612395 | LAMA2 | 156225 |
COL6A1 | 120220 | LARGE | 603590 |
COL6A2 | 120240 | POMGNT1 | 606822 |
COL6A3 | 120250 | POMGNT2 | 614828 |
DAG1 | 128239 | POMK | 615247 |
FHL1 | 300163 | POMT1 | 607423 |
FKRP | 606596 | POMT2 | 607439 |
FKTN | 607440 | SEPN1 | 606210 |
GMPPB | 615320 | TMEM5 | 605862 |
Strukturmyopathie (22 Gene) | |||
Gen | OMIM-Nr. | Gen | OMIM-Nr. |
ACTA1 | 102610 | MTMR14 | 611089 |
BIN1 | 601248 | MYF6 | 159991 |
CCDC78 | 614666 | MYH7 | 160760 |
CFL2 | 601443 | NEB | 161650 |
CNTN1 | 600016 | RYR1 | 180901 |
DNM2 | 602378 | SEPN1 | 606210 |
KBTBD13 | 613727 | SPEG | 615950 |
KLHL40 | 615340 | TNNT1 | 191041 |
KLHL41 | 607701 | TPM2 | 190990 |
LMOD3 | 616112 | TPM3 | 191030 |
MTM1 | 300415 | TTN | 188840 |
Metabolische MyopathienGlykogenspeicherkrankheiten (14 Gene) | |||
Gen | OMIM-Nr. | Gen | OMIM-Nr. |
AGL | 610860 | PHKA1 | 311870 |
FBP1 | 611570 | PHKA2 | 300798 |
G6PC | 613742 | PHKB | 172490 |
GBE1 | 607839 | PHKG2 | 172471 |
GYS1 | 138570 | PRKAG2 | 602743 |
GYS2 | 138571 | PYGL | 613741 |
PCK1 | 614168 | SLC37A4 | 602671 |
NeuropathieHMSN, gesamt (44 Gene) | |||
Gen | OMIM-Nr. | Gen | OMIM-Nr. |
AARS | 601065 | INF2 | 610982 |
AMACR | 604489 | KARS | 601421 |
ARHGEF10 | 608136 | KIF1B | 605995 |
BAG3 | 603883 | LITAF | 603795 |
COX10 | 602125 | LMNA | 150330 |
DNAJB2 | 604139 | LRSAM1 | 610933 |
DNM2 | 602378 | MED25 | 610197 |
DYNC1H1 | 600112 | MFN2 | 608507 |
EGR2 | 129010 | MPZ | 159440 |
FBLN5 | 604580 | MTMR2 | 603557 |
FGD4 | 611104 | NDRG1 | 605262 |
FIG4 | 609390 | NEFL | 162280 |
GAN | 605379 | PMP22 | 601097 |
GARS | 600287 | PRPS1 | 311850 |
GDAP1 | 606598 | PRX | 605725 |
GJB1 | 304040 | RAB7A | 602298 |
HARS | 142810 | SBF2 | 607697 |
HINT1 | 601314 | SH3TC2 | 608206 |
HK1 | 142600 | SLC12A6 | 604878 |
HSPB1 | 602195 | TRPV4 | 605427 |
HSPB8 | 608014 | TTR | 176300 |
IGHMBP2 | 600502 | YARS | 603623 |
HSAN (15 Gene) | |||
Gen | OMIM-Nr. | Gen | OMIM-Nr. |
ATL1 | 606439 | NTRK1 | 191315 |
ATL3 | 609369 | PRDM12 | 616458 |
DNMT1 | 126375 | SCN9A | 603415 |
DST | 113810 | SCN11A | 604385 |
FAM134B | 613114 | SPTLC1 | 605712 |
IKBKAP | 603722 | SPTLC2 | 605713 |
KIF1A | 601255 | WNK1 | 605232 |
NGF | 162030 |
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Spinale / Spinobulbäre MuskelatrophieSMA gesamt (21 Gene) | |||
Gen | OMIM-Nr. | Gen | OMIM-Nr. |
ASAH1 | 613468 | HSPB8 | 608014 |
ATP7A | 300011 | IGHMBP2 | 600502 |
BICD2 | 609797 | PLEKHG5 | 611101 |
BSCL2 | 616158 | REEP1 | 609139 |
CHCHD10 | 615903 | SLC5A7 | 608761 |
DNAJB2 | 604139 | TFG | 602498 |
DYNC1H1 | 600112 | TRPV4 | 605427 |
EXOSC3 | 606489 | UBA1 | 314370 |
EXOSC8 | 606019 | VABP | 605704 |
FBXO38 | 608533 | VRK1 | 602168 |
GARS | 600287 |
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