Gen-Panel
Hereditäre Ataxien, umfassende Diagnostik: ID276.03, 128 Gene
ABCB7,
ABHD12,
ACO2,
AFG3L2,
AIFM1,
ANGPTL1,
ANO10,
APOB,
APTX,
ATCAY,
ATG5,
ATG7,
ATM,
ATP1A3,
ATP2B3,
ATP8A2,
CA8,
CACNA1A,
CACNA1G,
CACNB4,
CAPN1,
CASK,
CCDC88C,
CHP1,
CLCN2,
CLN5,
COA7,
COQ2,
COQ4,
COQ8A,
CWF19L1,
CYP27A1,
DAB1,
DNMT1,
EEF2,
ELOVL4,
ELOVL5,
FAT2,
FGF12,
FGF14,
FLVCR1,
GDAP2,
GOSR2,
GRID2,
GRM1,
ITPR1,
KCNA1,
KCNC3,
KCND3,
KCNJ10,
KIF1C,
LAMA1,
MARS2,
MME,
MRE11,
MTCL1,
MTPAP,
MTTP,
NBN,
NKX6-2,
NPTX1,
OPHN1,
PCDH12,
PCNA,
PDYN,
PEX7,
PHYH,
PIK3R5,
PITRM1,
PLD3,
PMPCA,
PNKP,
PNPLA6,
POLG,
POLR3A,
POLR3B,
PRDX3,
PRKCG,
PRPS1,
PTF1A,
PUM1,
RFC1,
RNF216,
RNU12,
RUBCN,
SACS,
SAMD9L,
SCN2A,
SCYL1,
SETX,
SIL1,
SLC1A3,
SLC2A1,
SLC9A1,
SLC9A6,
SLC25A46,
SLC52A2,
SNX14,
SPG7,
SPTBN2,
SQSTM1,
STUB1,
SYNE1,
SYT14,
TDP1,
TDP2,
TGM6,
THG1L,
TMEM240,
TPP1,
TRPC3,
TSFM,
TTBK2,
TTPA,
TUBB4A,
TWNK,
TXN2,
UBA5,
VAMP1,
VLDLR,
VPS13D,
VPS41,
VWA3B,
WDR73,
WDR81,
WFS1,
WWOX,
XRCC1
Inkludierte Phänotypen
Ataxia teleangiectatica (AT): 5 Gene
APTX,
ATM,
MRE11,
NBN,
PCNA
Ataxie mit okulomotorische Apraxie (AOA): 4 Gene
APTX,
PIK3R5,
PNKP,
SETX
Episodische Ataxie (EA): 6 Gene
ATP1A3,
CACNA1A,
CACNB4,
KCNA1,
SCN2A,
SLC1A3
Spastische Ataxie (SPAX): 9 Gene
AFG3L2,
CHP1,
COQ4,
KIF1C,
MARS2,
MTPAP,
NKX6-2,
SACS,
VAMP1
Spinozerebelläre Ataxie, autosomal-dominant (SCA): 27 Gene
AFG3L2,
CACNA1A,
CACNA1G,
CCDC88C,
DAB1,
EEF2,
ELOVL4,
ELOVL5,
FAT2,
FGF14,
GRM1,
ITPR1,
KCNC3,
KCND3,
MME,
NPTX1,
PDYN,
PLD3,
PRKCG,
PUM1,
SAMD9L,
SPTBN2,
STUB1,
TGM6,
TMEM240,
TRPC3,
TTBK2
Spinozerebelläre Ataxie, autosomal-rezessiv (SCAR): 32 Gene
ANO10,
ATG5,
ATG7,
COA7,
COQ8A,
CWF19L1,
GDAP2,
GRID2,
GRM1,
PITRM1,
PMPCA,
PRDX3,
RNU12,
RUBCN,
SCYL1,
SETX,
SLC9A1,
SNX14,
SPTBN2,
STUB1,
SYNE1,
SYT14,
TDP1,
TDP2,
THG1L,
TPP1,
UBA5,
VPS13D,
VPS41,
VWA3B,
WWOX,
XRCC1
Zerebelläre Ataxie, X-chromosomal: 7 Gene
ABCB7,
AIFM1,
ATP2B3,
CASK,
OPHN1,
PRPS1,
SLC9A6
Zerebelläre Ataxie mit mentaler Retardierung (CAMRQ): 4 Gene
ATP8A2,
CA8,
VLDLR,
WDR81
HPO Terms
Ataxia, Gait ataxia, Nystagmus, Dysarthria, Intention tremor, Cerebellar atrophy, Sensory neuropathy, Spasticity, Tremor, Dysphagia, Intellectual disability, Peripheral neuropathy, Visual impairment, Hearing impairment, Pyramidal signs, Vertigo, Ophthalmoplegia, Oculomotor apraxia, Gait disturbance, Balance impairment
