TARGETED PANELS PORTOFLIO / Neurología
Ataxia
GENES
- AAAS
- AARS
- ABCB7
- ABHD12
- ACO2
- ADCY5
- ADGRG1
- ADPRHL2
- AFG3L2
- AGTPBP1
- AHI1
- ALDH5A1
- ALG1
- ALG11
- ALG12
- ALG3
- ALG6
- ALG8
- ALG9
- AMPD2
- ANO10
- AP1S2
- APTX
- ARL13B
- ARMC9
- ARSA
- ATCAY
- ATM
- ATP1A2
- ATP1A3
- ATP2B3
- ATP6AP1
- ATP6V0A2
- ATP7B
- ATP8A2
- B3GALNT2
- B3GALT6
- B3GAT3
- B3GLCT
- B4GALT1
- B4GALT7
- B4GAT1
- B9D2
- BEAN1
- BRF1
- C2CD3
- C5ORF42
- CA8
- CACNA1A
- CACNA1G
- CACNB4
- CAMTA1
- CAPN1
- CASK
- CC2D2A
- CCDC115
- CCDC88C
- CENPF
- CEP104
- CEP290
- CEP41
- CHMP1A
- CHST14
- CHST3
- CHST6
- CHSY1
- CLCN2
- CLN5
- CLN6
- CLP1
- CLPP
- COA7
- COASY
- COG1
- COG4
- COG5
- COG6
- COG7
- COG8
- COQ8A
- COX20
- CP
- CRB2
- CSPP1
- CSTB
- CTBP1
- CWF19L1
- CYP27A1
- CYP2U1
- DAG1
- DARS2
- DCC
- DDHD2
- DDX59
- DHCR7
- DKC1
- DMXL2
- DNAJC19
- DNAJC5
- DNMT1
- DOCK3
- DOLK
- DPAGT1
- DPM1
- DPM3
- DYNC1H1
- EBF3
- EEF2
- EIF2B1
- EIF2B2
- EIF2B3
- EIF2B4
- EIF2B5
- ELOVL4
- ELOVL5
- EPM2A
- EVC
- EVC2
- EXOSC3
- EXOSC8
- EXOSC9
- EXT1
- EXT2
- FAM149B1
- FDXR
- FGF14
- FKRP
- FKTN
- FLVCR1
- FMR1
- FOLR1
- FUT8
- FXN
- GALC
- GALNT3
- GBA2
- GDAP2
- GFAP
- GFPT1
- GJC2
- GLI3
- GLRA1
- GLRB
- GMPPB
- GNE
- GOSR2
- GPAA1
- GRID2
- GRM1
- GSS
- HEXA
- HEXB
- HIBCH
- HYLS1
- ICK
- INPP5E
- IRF2BPL
- ISPD
- ITM2B
- ITPR1
- KCNA1
- KCNA2
- KCNC3
- KCND3
- KCNJ10
- KCNQ2
- KCNQ3
- KIAA0586
- KIAA0753
- KIF1C
- KIF7
- LAMA1
- LARGE1
- LMNB1
- LNPK
- LRPPRC
- MAN1B1
- MAPK8IP3
- MARS2
- MECR
- MFN2
- MGAT2
- MKS1
- MMACHC
- MME
- MOGS
- MORC2
- MPDU1
- MPI
- MRE11
- MSTO1
- MTPAP
- MTTP
- MVK
- NDUFAF6
- NDUFS4
- NDUFS8
- NDUFV1
- NGLY1
- NHLRC1
- NKX2-1
- NKX6-2
- NOL3
- NPC1
- NPC2
- NPHP1
- NPHP3
- NUBPL
- OFD1
- OPA1
- OPA3
- OPHN1
- PACS2
- PAX6
- PDYN
- PEX16
- PEX2
- PEX6
- PGAP2
- PGAP3
- PGM1
- PGM3
- PHGDH
- PIGA
- PIGL
- PIGM
- PIGN
- PIGO
- PIGT
- PIGV
- PLA2G6
- PMM2
- PMPCA
- PMPCB
- PNKD
- PNKP
- PNPLA6
- POC1B
- POLG
- POLR3A
- POMGNT1
- POMGNT2
- POMT1
- POMT2
- PRICKLE1
- PRKCG
- PRNP
- PRRT2
- PTF1A
- PTRH2
- PUM1
- RARS2
- RELN
- RFT1
- RNF170
- RNF216
- ROBO3
- RORA
- RPGRIP1L
- RUBCN
- SACS
- SAMD9L
- SAR1B
- SCLT1
- SCN1A
- SCN8A
- SCYL1
- SEC23B
- SEPSECS
- SETX
- SIL1
- SLC1A3
- SLC20A2
- SLC25A46
- SLC2A1
- SLC35A1
- SLC35A2
- SLC35C1
- SLC35D1
- SLC39A8
- SLC52A2
- SLC9A1
- SLC9A6
- SMPD4
- SNX14
- SPG7
- SPR
- SPTBN2
- SQSTM1
- SRD5A3
- SSR4
- ST3GAL3
- ST3GAL5
- STT3A
- STUB1
- SUFU
- SYNE1
- SYNGAP1
- TBC1D23
- TCTN1
- TCTN2
- TCTN3
- TERT
- TGM6
- TINF2
- TMEM106B
- TMEM107
- TMEM138
- TMEM165
- TMEM216
- TMEM231
- TMEM237
- TMEM240
- TMEM5
- TMEM67
- TOE1
- TPP1
- TSEN15
- TSEN2
- TSEN34
- TSEN54
- TTBK2
- TTC19
- TTPA
- TUBA1A
- TUBA8
- TUBB2B
- TUBB3
- TUBB4A
- TUSC3
- TWNK
- TXNDC15
- UBA5
- UBTF
- UCHL1
- VAMP1
- VLDLR
- VPS13B
- VPS13D
- VPS53
- VRK1
- WDR73
- WDR81
- WFS1
- WWOX
- XRCC1
- XYLT1
- XYLT2
- ZFYVE26
- ZNF423
- ZSWIM6