NGS Metabole aandoeningen

Panel naam	NGS Metabole aandoeningen
Panel methode	WES-based NGS
Panel versie **	AUMC_Metaboolv1
Panel kwaliteit ***	C
Core-NL	Geen core-NL genen inbegrepen
CNV analyse	Nee
Locatie	Locatie AMC

Genen (723)	Kwaliteit	% coverage >30	% coverage >20	Core-NL	Notitie
AASS	C
ABAT	C
ABCC8	C
ABCD1	C
ABCD2	C
ABCD3	C
ABCD4	C
ABCG5	C
ABCG8	C
ABHD12	C
ABHD5	C
ACACA	C
ACAD8	C
ACAD9	C
ACADM	C
ACADS	C
ACADSB	C
ACADVL	C
ACAT1	C
ACAT2	C
ACBD5	C
ACO2	C
ACOX1	C
ACOX2	C
ACSF3	C
ACSL4	C
ACY1	C
ADA	C
ADCK5	C
ADCY5	C
ADK	C
ADSL	C
AGA	C
AGK	C
AGL	C
AGPAT2	C
AGPS	C
AGXT	C
AHCY	C
AK1	C
AK2	C
AKR1C1	C
AKR1D1	C
ALAD	C
ALAS2	C
ALDH18A1	C
ALDH1A3	C
ALDH2	C
ALDH3A2	C
ALDH4A1	C
ALDH5A1	C
ALDH6A1	C
ALDH7A1	C
ALDOA	C
ALDOB	C
ALG1	C
ALG10	C
ALG11	C
ALG12	C
ALG13	C
ALG14	C
ALG2	C
ALG3	C
ALG6	C
ALG8	C
ALG9	C
ALOX12B	C
ALPL	C
AMACR	C
AMN	C
AMPD1	C
AMPD3	C
AMT	C
AP1S1	C
AP3B2	C
APOA5	C
APOC2	C
APRT	C
ARG1	C
ARSA	C
ARSB	C
ASAH1	C
ASL	C
ASNS	C
ASPA	C
ASS1	C
ATIC	C
ATP1A1	C
ATP6AP1	C
ATP6AP2	C
ATP6V0A2	C
ATP6V1A	C
ATP6V1E1	C
ATP7A	C
ATP7B	C
ATP8B1	C
AUH	C
B3GALNT1	C
B3GALNT2	C
B3GALT6	C
B3GAT3	C
B3GLCT	C
B4GALT1	C
B4GALT7	C
B4GAT1	C
BAAT	C
BCAT1	C
BCAT2	C
BCKDHA	C
BCKDHB	C
BCKDK	C
BCO1	C
BLVRA	C
BMP2	C
BPGM	C
BPNT2	C
BSCL2	C
BTD	C
C1GALT1C1	C
C2orf69	C
CA5A	C
CAD	C
CANT1	C
CAT	C
CAV1	C
CAVIN1	C
CBLIF	C
CBS	C
CCDC115	C
CD320	C
CEL	C
CERKL	C
CERS3	C
CFTR	C
CHIT1	C
CHKB	C
CHST14	C
CHST3	C
CHST6	C
CHSY1	C
CIDEC	C
CLCN7	C
CLN3	C
CLN5	C
CLN6	C
CLN8	C
CLPB	C
CMAS	C
COG1	C
COG2	C
COG4	C
COG5	C
COG6	C
COG7	C
COG8	C
COMT	C
COQ2	C
COQ4	C
COQ5	C
COQ6	C
COQ7	C
COQ8A	C
COQ8B	C
COQ9	C
CP	C
CPOX	C
CPS1	C
CPT1A	C
CPT2	C
CRAT	C
CRPPA	C
CTH	C
CTNS	C
CTSA	C
CTSC	C
CTSD	C
CTSK	C
CUBN	C
CYB561	C
CYB5R3	C
CYP11A1	C
CYP11B1	C
CYP11B2	C
CYP17A1	C
CYP19A1	C
CYP1B1	C
CYP21A2	C
CYP27A1	C
CYP27B1	C
CYP2R1	C
CYP2U1	C
CYP7B1	C
D2HGDH	C
DAO	C
DBH	C
DBT	C
DCXR	C
DDC	C
DDHD1	C
DDOST	C
DEGS1	C
DGAT1	C
DGKE	C
DGUOK	C
DHCR24	C
DHCR7	C
DHDDS	C
DHFR	C
DHODH	C
DLD	C
DMGDH	C
DNAJC12	C
DNAJC19	C
DNM1L	C
DNM2	C
DNMT1	C
DNMT3B	C
DOLK	C
DPAGT1	C
DPM1	C
DPM2	C
DPM3	C
DPYD	C
DPYS	C
DTYMK	C
EBP	C
ECHS1	C
EDEM3	C
ELOVL1	C
ELOVL4	C
ENO3	C
EOGT	C
EPG5	C
EPHX1	C
EPHX2	C
ETFA	C
ETFB	C
ETFDH	C
ETHE1	C
EXT1	C
EXT2	C
EYA1	C
FA2H	C
FAH	C
FAR1	C
FBN1	C
FBP1	C
FBP2	C
FCSK	C
FDFT1	C
FECH	C
FH	C
FKRP	C
FKTN	C
FLAD1	C
FMO3	C
FOLR1	C
FTCD	C
FUCA1	C
FUT2	C
FUT6	C
FUT8	C
G6PC1	C
G6PC3	C
G6PD	C
GAA	C
GAD1	C
GALC	C
GALE	C
GALK1	C
GALM	C
GALNS	C
GALNT2	C
GALNT3	C
GALT	C
GAMT	C
GANAB	C
GATM	C
GBA1	C
GBA2	C
GBE1	C
GCDH	C
GCH1	C
GCK	C
GCLC	C
GCLM	C
GCSH	C
GFPT1	C
GGPS1	C
GK	C
GLA	C
GLB1	C
GLDC	C
GLRA1	C
GLRX5	C
GLS	C
GLUD1	C
GLUL	C
GLYCTK	C
GM2A	C
GMPPA	C
GMPPB	C
GMPS	C
GNE	C
GNMT	C
GNPAT	C
GNPTAB	C
GNPTG	C
GNS	C
GOT1	C
GOT2	C
GPD1	C
GPD1L	C
GPHN	C
GPI	C
GPIHBP1	C
GPT2	C
GPX1	C
GRHPR	C
GSS	C
GUSB	C
GYG1	C
GYS1	C
GYS2	C
H6PD	C
HADH	C
HADHA	C
HADHB	C
HAGH	C
HEXA	C
HEXB	C
HFE	C
HGD	C
HGSNAT	C
HIBADH	C
HIBCH	C
HK1	C
HLCS	C
HMBS	C
HMGCL	C
HMGCS2	C
HMOX1	C
HNF1A	C
HNF4A	C
HOGA1	C
HPD	C
HPDL	C
HPRT1	C
HS6ST1	C
HSD11B1	C
HSD11B2	C
HSD17B10	C
HSD17B3	C
HSD17B4	C
HSD3B2	C
HSD3B7	C
HTRA2	C
HYAL1	C
IDH2	C
IDH3B	C
IDI1	C
IDS	C
IDUA	C
IMPDH1	C
INPP5E	C
INPPL1	C
INSR	C
IREB2	C
ITCH	C
ITPA	C
IVD	C
KCNA2	C
KCNJ11	C
KMT2A	C
KMT2D	C
L2HGDH	C
LAMP2	C
LARGE1	C
LCAT	C
LCT	C
LDHA	C
LDHB	C
LFNG	C
LIAS	C
LIPA	C
LIPC	C
LIPE	C
LIPT1	C
LIPT2	C
LMBRD1	C
LMF1	C
LMNA	C
LMNB2	C
LPIN1	C
LPIN2	C
LPL	C
LRAT	C
LTC4S	C
LYST	C
MAN1B1	C
MAN2B1	C
MAN2B2	C
MANBA	C
MAOA	C
MAT1A	C
MBOAT7	C
MCCC1	C
MCCC2	C
MCEE	C
MCOLN1	C
MDH1	C
MFSD2A	C
MFSD8	C
MGAT2	C
MINPP1	C
MLYCD	C
MMAA	C
MMAB	C
MMACHC	C
MMADHC	C
MMUT	C
MOCOS	C
MOCS1	C
MOCS2	C
MOGS	C
MORC2	C
MPDU1	C
MPI	C
MRPL44	C
MRPS36	C
MSMO1	C
MTHFD1	C
MTHFR	C
MTM1	C
MTMR2	C
MTR	C
MTRR	C
MVK	C
NADK2	C
NAGA	C
NAGLU	C
NAGS	C
NANS	C
NAXD	C
NAXE	C
NBAS	C
NEU1	C
NGLY1	C
NMNAT1	C
NNT	C
NPC1	C
NPC2	C
NPL	C
NSD1	C
NSDHL	C
NT5C3A	C
NT5E	C
NUS1	C
OAT	C
OCRL	C
ODC1	C
OGDH	C
OGDHL	C
OPA3	C
OPLAH	C
OTC	C
OXCT1	C
PAH	C
PANK2	C
PC	C
PCBD1	C
PCCA	C
PCCB	C
PCK1	C
PCK2	C
PCYT1A	C
PCYT2	C
PDSS1	C
PDSS2	C
PEPD	C
PEX1	C
PEX10	C
PEX11B	C
PEX12	C
PEX13	C
PEX14	C
PEX16	C
PEX19	C
PEX2	C
PEX26	C
PEX3	C
PEX5	C
PEX6	C
PEX7	C
PFKM	C
PGAM2	C
PGAP1	C
PGAP2	C
PGAP3	C
PGK1	C
PGM1	C
PGM2L1	C
PGM3	C
PHGDH	C
PHKA1	C
PHKA2	C
PHKB	C
PHKG1	C
PHKG2	C
PHYH	C
PI4K2A	C
PIGA	C
PIGB	C
PIGC	C
PIGL	C
PIGM	C
PIGN	C
PIGO	C
PIGP	C
PIGQ	C
PIGT	C
PIGV	C
PIGW	C
PIGY	C
PIK3CA	C
PIK3R1	C
PIK3R2	C
PIK3R5	C
PIKFYVE	C
PIP5K1C	C
PKLR	C
PLA2G5	C
PLA2G6	C
PLA2G7	C
PLCB1	C
PLCB4	C
PLCD1	C
PLCE1	C
PLCG2	C
PLIN1	C
PLOD1	C
PLOD2	C
PLOD3	C
PLPBP	C
PMM2	C
PNLIP	C
PNMT	C
PNP	C
PNPLA2	C
PNPLA6	C
PNPO	C
POFUT1	C
POGLUT1	C
POLD1	C
POLR3A	C
POLR3B	C
POMGNT1	C
POMGNT2	C
POMK	C
POMT1	C
POMT2	C
PPARG	C
PPCS	C
PPM1K	C
PPOX	C
PPT1	C
PRKAG2	C
PRKCSH	C
PRODH	C
PRPS1	C
PSAP	C
PSAT1	C
PSPH	C
PTEN	C
PTGIS	C
PTPN11	C
PTS	C
PUS3	C
PYCR1	C
PYCR2	C
PYGL	C
PYGM	C
QDPR	C
RBCK1	C
RDH12	C
RDH5	C
RFT1	C
RINT1	C
RPE65	C
RPIA	C
RPN2	C
RXYLT1	C
SARDH	C
SAT1	C
SC5D	C
SCARB2	C
SCP2	C
SCYL1	C
SEC23B	C
SELENBP1	C
SEPSECS	C
SERAC1	C
SGSH	C
SI	C
SLC10A7	C
SLC12A1	C
SLC13A3	C
SLC16A1	C
SLC17A5	C
SLC18A2	C
SLC22A12	C
SLC22A5	C
SLC25A1	C
SLC25A13	C
SLC25A15	C
SLC25A19	C
SLC25A20	C
SLC25A21	C
SLC25A32	C
SLC25A38	C
SLC25A42	C
SLC28A1	C
SLC2A1	C
SLC2A2	C
SLC2A9	C
SLC30A10	C
SLC33A1	C
SLC35A1	C
SLC35A2	C
SLC35A3	C
SLC35C1	C
SLC35D1	C
SLC37A4	C
SLC39A14	C
SLC39A4	C
SLC39A8	C
SLC3A1	C
SLC44A1	C
SLC46A1	C
SLC52A1	C
SLC52A2	C
SLC52A3	C
SLC5A1	C
SLC5A2	C
SLC6A19	C
SLC6A5	C
SLC6A8	C
SLC6A9	C
SLC7A7	C
SLC7A9	C
SLCO1B1	C
SLCO1B3	C
SMPD1	C
SMS	C
SNX14	C
SOD1	C
SOD2	C
SPR	C
SPTLC1	C
SPTLC2	C
SQOR	C
SRD5A2	C
SRD5A3	C
SSR4	C
ST3GAL3	C
ST3GAL5	C
STAR	C
STS	C
STT3A	C
STT3B	C
STX5	C
SUCLA2	C
SUCLG1	C
SUCLG2	C
SUGCT	C
SUMF1	C
SUOX	C
TAFAZZIN	C
TALDO1	C
TANGO2	C
TAT	C
TBXAS1	C
TCIRG1	C
TCN2	C
TECR	C
TH	C
TIMM50	C
TK2	C
TKFC	C
TKT	C
TMEM106B	C
TMEM165	C
TMEM199	C
TMEM70	C
TMLHE	C
TPI1	C
TPK1	C
TPMT	C
TPP1	C
TRAK1	C
TRAPPC11	C
TRAPPC2L	C
TREH	C
TUSC3	C
TYMP	C
TYMS	C
TYR	C
TYRP1	C
UFM1	C
UGT1A1	C
UMPS	C
UPB1	C
UROC1	C
UROD	C
UROS	C
VMA21	C
VPS13B	C
VPS33A	C
XDH	C
XYLT1	C
XYLT2	C
ZBTB11	C
ZMPSTE24	C

Indicatie(s)
Behandelbare metabole neurodegeneratieve aandoeningen

** 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