NGS Bewegingsstoornissen

Panel naam	NGS Bewegingsstoornissen
Panel methode	WES-based NGS
Panel versie **	v3
Panel kwaliteit ***	C
Core-NL	Geen core-NL genen inbegrepen
CNV analyse	Nee
Notitie	Note: The motion panel is an NGS based technique and therefore does NOT detect repeat expansions and large deletions or duplications. This makes it impossible to detect repeat expansions in the spinocerebellar ataxia genes with this panel. These genes are therefore not included in this movement disorders panel. Coverage gegevens volgen nog.
Locatie	Locatie AMC

Genen (397)	Kwaliteit	% coverage >30	% coverage >20	Core-NL	Notitie
AAAS	C	100.00	100.00		NM_015665.6
AARS2	C	99.99	100.00		NM_020745.4
ABCB7	C	99.98	100.00		NM_001271696.3
ABCD1	C	99.99	100.00		NM_000033.4
ABHD12	C	100.00	100.00		NM_001042472.3
ACTB	C	100.00	100.00		NM_001101.5
ADAR	C	100.00	100.00		NM_001111.5
ADCY5	C	99.39	99.82		NM_183357.3
ADGRG1	C	99.94	100.00		NM_201525.4
ADPRS	C	99.58	99.81		NM_017825.3
AFG3L2	C	100.00	100.00		NM_006796.3
AGTPBP1	C	99.99	100.00		NM_001330701.2
AIMP1	C	99.96	100.00		NM_001142416.2
ALDH18A1	C	100.00	100.00		NM_002860.4
ALDH3A2	C	99.98	100.00		NM_000382.3
ALS2	C	100.00	100.00		NM_020919.4
AMPD2	C	99.67	99.98		NM_001368809.2
ANO10	C	99.92	99.97		NM_018075.5
ANO3	C	100.00	100.00		NM_031418.4
AP4B1	C	99.07	99.88		NM_001253852.3
AP4E1	C	100.00	100.00		NM_007347.5
AP4M1	C	100.00	100.00		NM_004722.4
AP4S1	C	100.00	100.00		NM_001128126.3
AP5Z1	C	100.00	100.00		NM_014855.3
APTX	C	100.00	100.00		NM_001195248.2
ARG1	C	100.00	100.00		NM_000045.4
ARL6IP1	C	99.97	100.00		NM_015161.3
ARSA	C	100.00	100.00		NM_000487.6
ARX	C	86.25	89.24		NM_139058.3
ASPA	C	100.00	100.00		NM_000049.4
ATCAY	C	100.00	100.00		NM_033064.5
ATG5	C	100.00	100.00		NM_004849.4
ATL1	C	100.00	100.00		NM_015915.5
ATM	C	100.00	100.00		NM_001351834.2
ATP13A2	C	99.94	100.00		NM_022089.4
ATP1A2	C	99.99	100.00		NM_000702.4
ATP1A3	C	100.00	100.00		NM_152296.5
ATP2B3	C	100.00	100.00		NM_001001344.3
ATP6AP2	C	99.95	100.00		NM_005765.3
ATP7B	C	100.00	100.00		NM_000053.4
ATP8A2	C	100.00	100.00		NM_016529.6
AUH	C	100.00	100.00		NM_001698.3
B4GALNT1	C	99.99	100.00		NM_001478.5
BCAP31	C	99.78	99.91		NM_001256447.2
BCKDHA	C	100.00	100.00		NM_000709.4
BCKDHB	C	100.00	100.00		NM_183050.4
BSCL2	C	100.00	100.00		NM_001122955.4
BTD	C	100.00	100.00		NM_001370658.1
C19orf12	C	100.00	100.00		NM_031448.6
CA8	C	99.93	100.00		NM_004056.6
CACNA1A	C	98.14	98.14		NM_001127222.2
CACNA1B	C	99.91	99.97		NM_000718.4
CACNA1E	C	99.99	100.00		NM_001205293.3
CACNA1G	C	99.98	100.00		NM_018896.5
CACNB4	C	99.94	100.00		NM_000726.5
CAMTA1	C	99.97	100.00		NM_015215.4
CAPN1	C	100.00	100.00		NM_005186.4
CCDC88C	C	100.00	100.00		NM_001080414.4
CCT5	C	100.00	100.00		NM_012073.5
CHMP1A	C	100.00	100.00		NM_002768.5
CHP1	C	99.98	100.00		NM_007236.5
CIZ1	C	100.00	100.00		NM_001131016.2
CLCN2	C	100.00	100.00		NM_004366.6
CLCN4	C	100.00	100.00		NM_001830.4
CLPB	C	100.00	100.00		NM_001258392.3
COASY	C	100.00	100.00		NM_025233.7
COL4A1	C	99.99	100.00		NM_001845.6
COL6A3	C	100.00	100.00		NM_004369.4
COQ2	C	100.00	100.00		NM_001358921.2
COQ4	C	100.00	100.00		NM_016035.5
COQ8A	C	100.00	100.00		NM_020247.5
COQ9	C	99.07	99.86		NM_020312.4
COX20	C	99.86	100.00		NM_198076.6
CP	C	100.00	100.00		NM_000096.4
CPT1C	C	100.00	100.00		NM_001199753.2
CSF1R	C	100.00	100.00		NM_001288705.3
CSTB	C	100.00	100.00		NM_000100.4
CTBP1	C	100.00	100.00		NM_001012614.2
CWF19L1	C	100.00	100.00		NM_018294.6
CYB5R3	C	99.92	99.97		NM_000398.7
CYP27A1	C	100.00	100.00		NM_000784.4
CYP2U1	C	100.00	100.00		NM_183075.3
CYP7B1	C	100.00	100.00		NM_004820.5
DAB1	C	97.77	99.4		NM_001365792.1
DARS1	C	99.77	99.91		NM_001349.4
DARS2	C	99.69	99.99		NM_018122.5
DBT	C	99.79	99.99		NM_001918.5
DCAF17	C	99.96	100.00		NM_025000.4
DCC	C	100.00	100.00		NM_005215.4
DCTN1	C	100.00	100.00		NM_004082.5
DDC	C	100.00	100.00		NM_001082971.2
DDHD1	C	100.00	100.00		NM_001160148.2
DDHD2	C	100.00	100.00		NM_015214.3
DHDDS	C	99.06	99.92		NM_205861.3
DLAT	C	99.96	100.00		NM_001931.5
DLD	C	100.00	100.00		NM_000108.5
DNAJC12	C	100.00	100.00		NM_021800.3
DNAJC3	C	100.00	100.00		NM_006260.5
DNAJC6	C	100.00	100.00		NM_001256864.2
DNAL4	C	100.00	100.00		NM_005740.3
DNMT1	C	99.03	99.35		NM_001130823.3
DPYS	C	100.00	100.00		NM_001385.3
DSTYK	C	99.98	100.00		NM_015375.3
ECHS1	C	100.00	100.00		NM_004092.4
EEF2	C	99.97	100.00		NM_001961.4
EIF2B1	C	100.00	100.00		NM_001414.4
EIF2B2	C	99.96	100.00		NM_014239.4
EIF2B3	C	99.36	99.92		NM_020365.5
EIF2B4	C	100.00	100.00		NM_001034116.2
EIF2B5	C	100.00	100.00		NM_003907.3
EIF4G1	C	100.00	100.00		NM_198241.3
ELOVL4	C	99.99	100.00		NM_022726.4
ELOVL5	C	100.00	100.00		NM_021814.5
ENTPD1	C	100.00	100.00		NM_001776.6
ERLIN1	C	100.00	100.00		NM_006459.4
ERLIN2	C	100.00	100.00		NM_007175.8
ETHE1	C	85.1	85.1		NM_014297.5
EXOSC3	C	100.00	100.00		NM_016042.4
EXOSC5	C	100.00	100.00		NM_020158.4
FA2H	C	100.00	100.00		NM_024306.5
FAR1	C	100.00	100.00		NM_032228.6
FARS2	C	100.00	100.00		NM_006567.5
FAT2	C	100.00	100.00		NM_001447.3
FBXO7	C	100.00	100.00		NM_012179.4
FGF14	C	100.00	100.00		NM_004115.4
FLVCR1	C	99.96	99.96		NM_014053.4
FOLR1	C	100.00	100.00		NM_016729.3
FOXG1	C	93.75	97.53		NM_005249.5
FRMD7	C	100.00	100.00		NM_194277.3
FTL	C	100.00	100.00		NM_000146.4
FUS	C	100.00	100.00		NM_004960.4
FXN	C	100.00	100.00		NM_000144.5
GALC	C	99.99	100.00		NM_000153.4
GAN	C	100.00	100.00		NM_022041.4
GBA1
GBA2	C	100.00	100.00		NM_020944.3
GBE1	C	100.00	100.00		NM_000158.4
GCDH	C	100.00	100.00		NM_000159.4
GCH1	C	99.96	99.99		NM_000161.3
GDAP2	C	99.11	99.92		NM_017686.4
GFAP	C	100.00	100.00		NM_002055.5
GJC2	C	99.66	99.97		NM_020435.4
GLB1	C	100.00	100.00		NM_000404.4
GNAL	C	100.00	100.00		NM_182978.4
GOSR2	C	100.00	100.00		NM_004287.5
GPR143	C	100.00	100.00		NM_000273.3
GRID2	C	100.00	100.00		NM_001510.4
GRIN1	C	100.00	100.00		NM_007327.4
GRIN2B	C	100.00	100.00		NM_000834.5
GRM1	C	100.00	100.00		NM_001278064.2
HACE1	C	100.00	100.00		NM_020771.4
HEXB	C	99.99	100.00		NM_000521.4
HK1	C	99.83	100.00		NM_000188.3
HPCA	C	100.00	100.00		NM_002143.3
HPDL	C	100.00	100.00		NM_032756.4
HPRT1	C	99.86	99.98		NM_000194.3
HSD17B4	C	99.99	100.00		NM_000414.4
HSPD1	C	85.39	85.64		NM_002156.5
HTRA2	C	100.00	100.00		NM_013247.5
HYCC1
IBA57	C	99.96	100.00		NM_001010867.4
IFRD1	C	100.00	100.00		NM_001550.4
ISCA2	C	100.00	100.00		NM_194279.4
ITPR1	C	100.00	100.00		NM_001378452.1
JAM2	C	99.72	99.82		NM_021219.4
JAM3	C	100.00	100.00		NM_032801.5
KATNB1	C	99.86	99.94		NM_005886.3
KCNA1	C	100.00	100.00		NM_000217.3
KCNA2	C	100.00	100.00		NM_004974.4
KCNC1	C	100.00	100.00		NM_001112741.2
KCNC3	C	96.15	98.32		NM_004977.3
KCND3	C	100.00	100.00		NM_001378969.1
KCNJ10	C	100.00	100.00		NM_002241.5
KCNJ6	C	100.00	100.00		NM_002240.5
KCNMA1	C	99.75	99.99		NM_001161352.2
KCTD17	C	100.00	100.00		NM_001282684.2
KCTD7	C	99.87	100.00		NM_153033.5
KIDINS220	C	99.98	100.00		NM_020738.4
KIF1A	C	100.00	100.00		NM_001244008.2
KIF1C	C	100.00	100.00		NM_006612.6
KIF5A	C	99.99	100.00		NM_004984.4
KMT2B	C	99.13	99.46		NM_014727.3
L1CAM	C	100.00	100.00		NM_001278116.2
LAMA1	C	100.00	100.00		NM_005559.4
LAMB1	C	100.00	100.00		NM_002291.3
LMNB1	C	100.00	100.00		NM_005573.4
MAG	C	100.00	100.00		NM_002361.4
MAPK8IP3	C	100.00	100.00		NM_001318852.2
MARS2	C	100.00	100.00		NM_138395.4
MECP2	C	99.58	99.98		NM_001110792.2
MECR	C	99.06	99.96		NM_016011.5
MFF	C	99.94	100.00		NM_001277062.2
MICU1	C	99.98	100.00		NM_001195518.2
MLC1	C	100.00	100.00		NM_015166.4
MMADHC	C	100.00	100.00		NM_015702.3
MME	C	99.95	100.00		NM_007289.4
MRE11	C	99.95	100.00		NM_005591.4
MTHFR	C	100.00	100.00		NM_005957.5
MTPAP	C	100.00	100.00		NM_018109.4
MTRFR	C	100.00	100.00		NM_152269.5
MTTP	C	99.99	100.00		NM_001386140.1
MVK	C	100.00	100.00		NM_000431.4
MYBPC1	C	100.00	100.00		NM_002465.4
MYORG	C	100.00	100.00		NM_020702.5
NANS	C	100.00	100.00		NM_018946.4
NEFL	C	100.00	100.00		NM_006158.4
NEU1	C	100.00	100.00		NM_000434.4
NEXMIF	C	100.00	100.00		NM_001008537.3
NFASC	C	99.98	100.00		NM_001005388.3
NGLY1	C	100.00	100.00		NM_018297.4
NIPA1	C	97.46	99.4		NM_144599.5
NKX2-1	C	100.00	100.00		NM_001079668.3
NKX6-2	C	99.86	100.00		NM_177400.3
NOL3	C	100.00	100.00		NM_001276309.3
NPC1	C	100.00	100.00		NM_000271.5
NPC2	C	100.00	100.00		NM_006432.5
NT5C2	C	99.96	100.00		NM_001351169.2
NUP62	C	100.00	100.00		NM_016553.5
OCLN	C	83.59	88.19		NM_001205254.2
OPA1	C	100.00	100.00		NM_130837.3
OPHN1	C	99.95	100.00		NM_002547.3
PACS2	C	99.93	99.99		NM_001100913.3
PANK2	C	100.00	100.00		NM_001386393.1
PARK7	C	100.00	100.00		NM_007262.5
PAX6	C	100.00	100.00		NM_001368894.2
PCNA	C	100.00	100.00		NM_182649.2
PCYT2	C	99.92	99.92		NM_002861.5
PDE10A	C	80.42	82.55		NM_001385079.1
PDE8B	C	100.00	100.00		NM_001349749.3
PDGFB	C	100.00	100.00		NM_002608.4
PDGFRB	C	100.00	100.00		NM_002609.4
PDHA1	C	100.00	100.00		NM_000284.4
PDHX	C	100.00	100.00		NM_003477.3
PDSS1	C	96.86	96.86		NM_014317.5
PDSS2	C	100.00	100.00		NM_020381.4
PDYN	C	100.00	100.00		NM_024411.5
PEX10	C	100.00	100.00		NM_002617.4
PEX2	C	100.00	100.00		NM_000318.3
PEX7	C	100.00	100.00		NM_000288.4
PHYH	C	99.93	100.00		NM_006214.4
PIK3R5	C	100.00	100.00		NM_001142633.3
PLA2G6	C	99.99	100.00		NM_003560.4
PLD3	C	100.00	100.00		NM_012268.4
PLP1	C	100.00	100.00		NM_000533.5
PMM2	C	100.00	100.00		NM_000303.3
PMPCA	C	100.00	100.00		NM_015160.3
PNKD	C	100.00	100.00		NM_015488.5
PNKP	C	100.00	100.00		NM_007254.4
PNPLA6	C	100.00	100.00		NM_001166114.2
POLG	C	100.00	100.00		NM_002693.3
POLR1C	C	100.00	100.00		NM_203290.4
POLR3A	C	100.00	100.00		NM_007055.4
POLR3B	C	100.00	100.00		NM_018082.6
PPP2R2B	C	100.00	100.00		NM_181675.4
PREPL	C	100.00	100.00		NM_001171613.2
PRF1	C	100.00	100.00		NM_001083116.3
PRICKLE1	C	100.00	100.00		NM_153026.3
PRKCG	C	100.00	100.00		NM_002739.5
PRKN	C	100.00	100.00		NM_004562.3
PRKRA	C	100.00	100.00		NM_003690.5
PRRT2	C	100.00	100.00		NM_145239.3
PSAP	C	100.00	100.00		NM_002778.4
PTRH2	C	100.00	100.00		NM_016077.5
PTS	C	100.00	100.00		NM_000317.3
PUM1	C	99.16	99.89		NM_001020658.2
PYCR2	C	99.93	100.00		NM_013328.4
QDPR	C	100.00	100.00		NM_000320.3
RAB18	C	100.00	100.00		NM_021252.5
RAB3GAP1	C	100.00	100.00		NM_012233.3
RAB3GAP2	C	99.97	100.00		NM_012414.4
RAD51	C	100.00	100.00		NM_002875.5
RARB	C	100.00	100.00		NM_000965.5
RARS1	C	99.99	100.00		NM_002887.4
RARS2	C	99.97	100.00		NM_020320.5
REEP1	C	100.00	100.00		NM_001371279.1
RETREG1	C	100.00	100.00		NM_001034850.3
RNASEH2A	C	100.00	100.00		NM_006397.3
RNASEH2B	C	100.00	100.00		NM_024570.4
RNASEH2C	C	100.00	100.00		NM_032193.4
RNF170	C	99.99	100.00		NM_030954.4
RNF216	C	100.00	100.00		NM_207111.4
RTN2	C	100.00	100.00		NM_005619.5
RUBCN	C	100.00	100.00		NM_014687.4
SACS	C	100.00	100.00		NM_014363.6
SAMD9L	C	100.00	100.00		NM_152703.5
SAMHD1	C	100.00	100.00		NM_015474.4
SCN11A	C	100.00	100.00		NM_001349253.2
SCN1A	C	100.00	100.00		NM_001165963.4
SCN2A	C	100.00	100.00		NM_001040142.2
SCN8A	C	99.98	100.00		NM_001330260.2
SCYL1	C	100.00	100.00		NM_020680.4
SEPSECS	C	99.93	99.99		NM_016955.4
SERAC1	C	100.00	100.00		NM_032861.4
SETX	C	100.00	100.00		NM_015046.7
SGCE	C	99.99	100.00		NM_003919.3
SIL1	C	100.00	100.00		NM_022464.5
SLC12A6	C	100.00	100.00		NM_001365088.1
SLC16A2	C	100.00	100.00		NM_006517.5
SLC17A5	C	99.97	100.00		NM_012434.5
SLC19A3	C	100.00	100.00		NM_025243.4
SLC1A3	C	100.00	100.00		NM_004172.5
SLC20A2	C	100.00	100.00		NM_001257180.2
SLC25A15	C	100.00	100.00		NM_014252.4
SLC2A1	C	99.92	100.00		NM_006516.4
SLC30A10	C	100.00	100.00		NM_018713.3
SLC33A1	C	100.00	100.00		NM_004733.4
SLC39A14	C	100.00	100.00		NM_001128431.4
SLC52A2	C	100.00	100.00		NM_001363118.2
SLC52A3	C	100.00	100.00		NM_033409.4
SLC6A19	C	100.00	100.00		NM_001003841.3
SLC6A3	C	99.99	100.00		NM_001044.5
SLC9A1	C	99.96	100.00		NM_003047.5
SMPD1	C	100.00	100.00		NM_000543.5
SNCA	C	100.00	100.00		NM_000345.4
SNORD118
SNX14	C	99.95	99.99		NM_153816.6
SOX10	C	100.00	100.00		NM_006941.4
SPART	C	100.00	100.00		NM_015087.5
SPAST	C	100.00	100.00		NM_014946.4
SPG11	C	100.00	100.00		NM_025137.4
SPG21	C	99.98	100.00		NM_016630.7
SPG7	C	100.00	100.00		NM_003119.4
SPR	C	100.00	100.00		NM_003124.5
SPTBN2	C	100.00	100.00		NM_006946.4
STUB1	C	100.00	100.00		NM_005861.4
SUCLA2	C	99.99	100.00		NM_003850.3
SUCLG1	C	99.96	100.00		NM_003849.4
SUMF1	C	100.00	100.00		NM_182760.4
SUOX	C	100.00	100.00		NM_001032386.2
SURF1	C	100.00	100.00		NM_003172.4
SYNE1	C	100.00	100.00		NM_182961.4
SYT14	C	93.3	93.32		NM_001146261.2
TAF1	C	99.99	100.00		NM_004606.5
TANGO2	C	99.96	100.00		NM_152906.7
TBC1D20	C	100.00	100.00		NM_144628.4
TBC1D23	C	99.96	100.00		NM_001199198.3
TBCD	C	100.00	100.00		NM_005993.5
TDP1	C	100.00	100.00		NM_018319.4
TDP2	C	100.00	100.00		NM_016614.3
TECPR2	C	100.00	100.00		NM_014844.5
TENM4	C	100.00	100.00		NM_001098816.3
TFG	C	99.92	99.98		NM_006070.6
TGM6	C	100.00	100.00		NM_198994.3
TH	C	100.00	100.00		NM_000360.4
THAP1	C	100.00	100.00		NM_018105.3
TIMM8A	C	100.00	100.00		NM_004085.4
TMEM106B	C	100.00	100.00		NM_001134232.2
TMEM240	C	100.00	100.00		NM_001114748.2
TMEM67	C	99.96	100.00		NM_153704.6
TOE1	C	100.00	100.00		NM_025077.4
TOR1A	C	100.00	100.00		NM_000113.3
TPP1	C	100.00	100.00		NM_000391.4
TREM2	C	100.00	100.00		NM_018965.4
TREX1	C	100.00	100.00		NM_033629.6
TRPC3	C	100.00	100.00		NM_001130698.2
TSEN2	C	100.00	100.00		NM_025265.4
TSEN54	C	99.66	99.92		NM_207346.3
TTBK2	C	100.00	100.00		NM_173500.4
TTC19	C	100.00	100.00		NM_017775.4
TTPA	C	100.00	100.00		NM_000370.3
TUBA1A	C	100.00	100.00		NM_006009.4
TUBB4A	C	100.00	100.00		NM_006087.4
TUBG1	C	100.00	100.00		NM_001070.5
TWNK	C	100.00	100.00		NM_021830.5
TYROBP	C	100.00	100.00		NM_003332.4
UBA5	C	100.00	100.00		NM_024818.6
UBAP1	C	99.99	100.00		NM_016525.5
UBQLN2	C	100.00	100.00		NM_013444.4
UCHL1	C	100.00	100.00		NM_004181.5
VAMP1	C	100.00	100.00		NM_014231.5
VARS2	C	100.00	100.00		NM_020442.6
VCP	C	99.98	99.98		NM_007126.5
VLDLR	C	100.00	100.00		NM_003383.5
VPS11	C	100.00	100.00		NM_001378219.1
VPS13A	C	100.00	100.00		NM_033305.3
VPS13C	C	99.97	99.99		NM_020821.3
VPS13D	C	100.00	100.00		NM_015378.4
VPS16	C	100.00	100.00		NM_022575.4
VPS35	C	100.00	100.00		NM_018206.6
VPS37A	C	100.00	100.00		NM_152415.3
VPS53	C	100.00	100.00		NM_001128159.3
VRK1	C	100.00	100.00		NM_003384.3
VWA3B	C	99.71	99.96		NM_144992.5
WASHC5	C	100.00	100.00		NM_014846.4
WDR26	C	93.41	95.24		NM_001379403.1
WDR45	C	100.00	100.00		NM_001029896.2
WDR73	C	100.00	100.00		NM_032856.5
WDR81	C	100.00	100.00		NM_001163809.2
WFS1	C	100.00	100.00		NM_006005.3
WWOX	C	100.00	100.00		NM_016373.4
XK	C	100.00	100.00		NM_021083.4
XPR1	C	99.93	100.00		NM_004736.4
XRCC1	C	100.00	100.00		NM_006297.2
ZC4H2	C	100.00	100.00		NM_018684.4
ZFYVE26	C	100.00	100.00		NM_015346.4
ZFYVE27	C	100.00	100.00		NM_001385875.1
ZNF592	C	100.00	100.00		NM_014630.3

Indicatie(s)
Bewegingsstoornissen

** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek

*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C