CRAT | Belgian Genetic Tests database

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Name:	carnitine acetyltransferase
Symbol:	CRAT
Synonyms:	CAT1
XREF(s):	OMIM HGNC
Created:	19 Jun 2019 - 15:45
Changed:	19 Jun 2019 - 15:45

Related Genetic Tests

Related Gene Panels

Ataxia (348 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AAAS	100.00	No comment
ABCB7	99.99	No comment
ABCD1	97.56	No comment
ABHD12	88.30	No comment
ABHD5	99.85	No comment
ACADVL	98.04	No comment
ACO2	100.00	No comment
COQ8A	99.92	No comment
AFG3L2	94.80	No comment
AHI1	100.00	No comment
ALAS2	100.00	No comment
ALDH18A1	100.00	No comment
ALDH5A1	84.13	No comment
ALG6	100.00	No comment
ALS2	100.00	No comment
AMACR	96.78	No comment
AMPD2	99.90	No comment
AMT	100.00	No comment
ANO10	100.00	No comment
AP1S2	100.00	No comment
APTX	99.96	No comment
ARL13B	99.98	No comment
ARL6	100.00	No comment
ARSA	100.00	No comment
ARX	100.00	No comment
ASPA	100.00	No comment
ATCAY	100.00	No comment
ATG5	100.00	No comment
ATL1	99.89	No comment
ATM	100.00	No comment
ATP1A3	100.00	No comment
ATP2B2	100.00	No comment
ATP2B3	99.89	No comment
ATP7B	100.00	No comment
ATP8A2	99.91	No comment
ATXN1	100.00	No comment
ATXN10	98.19	No comment
ATXN2	93.25	No comment
ATXN3	99.47	No comment
ATXN7	98.67	No comment
B9D1	99.89	No comment
BBS1	100.00	No comment
BBS10	100.00	No comment
BBS12	100.00	No comment
BBS2	100.00	No comment
BBS4	99.97	No comment
BBS5	100.00	No comment
BBS7	99.99	No comment
BBS9	99.93	No comment
BEAN1	100.00	No comment
BIVM	100.00	No comment
BSCL2	100.00	No comment
BTD	100.00	No comment
TWNK	100.00	No comment
MTRFR	100.00	No comment
C19ORF12	100.00	No comment
CPLANE1	100.00	No comment
CA8	100.00	No comment
CACNA1A	99.53	No comment
CACNA1G	99.97	No comment
CACNB4	99.95	No comment
CAMTA1	99.98	No comment
CAPN1	99.97	No comment
CASK	99.99	No comment
CC2D2A	100.00	No comment
CCDC88C	99.64	No comment
CEP290	100.00	No comment
CEP41	100.00	No comment
CHMP1A	100.00	No comment
CLCN2	100.00	No comment
CLN5	98.80	No comment
CLN6	90.40	No comment
CLPP	97.95	No comment
COA7	100.00	No comment
COASY	100.00	No comment
COG5	99.95	No comment
COQ2	99.66	No comment
COQ6	100.00	No comment
COQ9	100.00	No comment
COX20	95.39	No comment
CP	100.00	No comment
CRAT	99.29	No comment
CSTB	98.75	No comment
CWF19L1	100.00	No comment
CYP27A1	99.38	No comment
CYP2U1	93.20	No comment
CYP7B1	95.41	No comment
DARS1	100.00	No comment
DARS2	100.00	No comment
DDB2	100.00	No comment
DDHD2	100.00	No comment
DLAT	100.00	No comment
DMXL2	100.00	No comment
DNAJC19	99.65	No comment
DNAJC3	99.99	No comment
DNAJC5	100.00	No comment
DNMT1	99.54	No comment
EBF3	99.94	No comment
EEF2	100.00	No comment
EIF2B1	100.00	No comment
EIF2B2	99.61	No comment
EIF2B3	98.87	No comment
EIF2B4	100.00	No comment
EIF2B5	100.00	No comment
ELOVL4	100.00	No comment
ELOVL5	100.00	No comment
EPM2A	97.21	No comment
ERCC2	99.22	No comment
ERCC3	100.00	No comment
ERCC4	99.99	No comment
ERCC5	100.00	No comment
ETFA	100.00	No comment
ETFB	100.00	No comment
ETFDH	100.00	No comment
EXOSC3	100.00	No comment
FA2H	95.71	No comment
FARS2	100.00	No comment
FBXL4	100.00	No comment
FDXR	100.00	No comment
FGF14	100.00	No comment
FLVCR1	100.00	No comment
FMR1	99.99	No comment
FOLR1	100.00	No comment
FRMD7	99.98	No comment
FXN	100.00	No comment
GALC	98.98	No comment
GBA1	100.00	No comment
GBA2	100.00	No comment
GBE1	100.00	No comment
GCDH	100.00	No comment
GCLC	99.98	No comment
GCSH	73.97	No comment
GFAP	100.00	No comment
GJC2	96.72	No comment
GLB1	100.00	No comment
GLDC	97.39	No comment
GLRX5	100.00	No comment
GM2A	100.00	No comment
GOSR2	100.00	No comment
GPAA1	95.08	No comment
GPR143	89.09	No comment
ADGRG1	99.99	No comment
GRID2	100.00	No comment
GRM1	99.99	No comment
GSS	100.00	No comment
HARS2	100.00	No comment
HEPACAM	99.85	No comment
HERC1	100.00	No comment
HEXA	100.00	No comment
HEXB	99.19	No comment
HIBCH	100.00	No comment
HPRT1	92.71	No comment
HTRA1	75.65	No comment
IFRD1	98.86	No comment
IGDCC3	95.07	No comment
INPP5E	99.14	No comment
IRF2BPL	97.56	No comment
ITM2B	100.00	No comment
ITPR1	99.99	No comment
KCNA1	100.00	No comment
KCNC3	76.20	No comment
KCND3	100.00	No comment
KCNJ10	100.00	No comment
KCNJ6	100.00	No comment
KCNMA1	99.93	No comment
WASHC5	100.00	No comment
RUBCN	96.60	No comment
NEXMIF	100.00	No comment
KIF1A	98.74	No comment
KIF1C	100.00	No comment
KIF5A	100.00	No comment
KIF5C	100.00	No comment
KIF7	99.64	No comment
L2HGDH	99.75	No comment
LAMA1	99.79	No comment
LAMB1	100.00	No comment
LARS2	100.00	No comment
LMNB1	97.00	No comment
LRPPRC	98.80	No comment
LYST	100.00	No comment
MFSD8	100.00	No comment
MKKS	100.00	No comment
MKS1	100.00	No comment
MLC1	98.57	No comment
MMACHC	100.00	No comment
MME	100.00	No comment
MRE11	99.05	No comment
MSTO1	99.96	No comment
MTFMT	97.83	No comment
MTPAP	99.98	No comment
MTRR	100.00	No comment
MTTP	100.00	No comment
MVK	100.00	No comment
NANS	100.00	No comment
NDUFAF6	95.61	No comment
NDUFS1	100.00	No comment
NDUFS2	100.00	No comment
NDUFS4	99.96	No comment
NDUFS7	93.34	No comment
NDUFS8	100.00	No comment
NDUFV1	99.62	No comment
NEFL	99.62	No comment
NEU1	100.00	No comment
NHLRC1	96.01	No comment
NKX6-2	94.10	No comment
NOL3	100.00	No comment
NOP56	99.99	No comment
NOTCH3	93.46	No comment
NPC1	97.50	No comment
NPC2	100.00	No comment
NPHP1	100.00	No comment
NUBPL	99.92	No comment
OCLN	100.00	No comment
OFD1	97.13	No comment
MED12	99.98	No comment
OPA3	100.00	No comment
OPHN1	99.94	No comment
OTUD4	100.00	No comment
PAX6	100.00	No comment
PDGFRB	99.98	No comment
PDHX	100.00	No comment
PDSS1	85.11	No comment
PDSS2	100.00	No comment
PDYN	100.00	No comment
PEX10	87.10	No comment
PEX16	99.97	No comment
PEX2	100.00	No comment
PEX7	95.60	No comment
PHYH	99.81	No comment
PIK3R5	100.00	No comment
PLA2G6	100.00	No comment
PLEKHG4	100.00	No comment
PLP1	100.00	No comment
PMM2	100.00	No comment
PMPCA	100.00	No comment
PNKD	99.93	No comment
PNKP	99.84	No comment
PNPLA6	99.95	No comment
POLG	100.00	No comment
POLH	100.00	No comment
POLR3A	100.00	No comment
POLR3B	100.00	No comment
PPP2R2B	100.00	No comment
PRICKLE1	100.00	No comment
PRKCG	100.00	No comment
PRNP	99.92	No comment
PRPS1	99.91	No comment
PRRT2	100.00	No comment
PTEN	99.45	No comment
PUM1	100.00	No comment
RAB18	99.99	No comment
RAB3A	100.00	No comment
RAB3GAP1	100.00	No comment
RARS2	100.00	No comment
RELN	100.00	No comment
RNASEH2A	100.00	No comment
RNASEH2C	100.00	No comment
RNF170	100.00	No comment
RNF216	100.00	No comment
RPGRIP1L	96.40	No comment
RRM2B	100.00	No comment
SACS	99.95	No comment
SAMD9L	100.00	No comment
SAMHD1	100.00	No comment
SAR1B	100.00	No comment
SCN8A	100.00	No comment
SEC16A	99.98	No comment
SEPSECS	99.57	No comment
SERAC1	100.00	No comment
SETX	100.00	No comment
SIL1	99.95	No comment
SKOR1	98.57	No comment
SLC16A2	99.97	No comment
SLC17A5	100.00	No comment
SLC19A3	99.90	No comment
SLC1A3	100.00	No comment
SLC20A2	100.00	No comment
SLC25A15	100.00	No comment
SLC25A46	100.00	No comment
SLC2A1	100.00	No comment
SLC39A8	98.92	No comment
SLC52A2	100.00	No comment
SLC52A3	99.86	No comment
SLC9A1	100.00	No comment
SLC9A6	99.66	No comment
SMPD1	100.00	No comment
SNX14	99.98	No comment
SPAST	99.83	No comment
SPG11	100.00	No comment
SPG7	95.78	No comment
SPR	99.98	No comment
SPTBN2	99.93	No comment
SRD5A3	98.61	No comment
STUB1	99.69	No comment
SYNE1	100.00	No comment
SYT14	92.28	No comment
TANGO2	99.94	No comment
TBC1D20	95.06	No comment
TBCC	100.00	No comment
TBP	100.00	No comment
TCTN1	100.00	No comment
TCTN2	100.00	No comment
TCTN3	100.00	No comment
TDP1	100.00	No comment
TDP2	100.00	No comment
TGM6	100.00	No comment
TK2	100.00	No comment
TMEM138	100.00	No comment
TMEM216	99.87	No comment
TMEM231	100.00	No comment
TMEM237	99.85	No comment
TMEM240	96.75	No comment
TMEM67	99.95	No comment
ACD	99.99	No comment
TRIM32	100.00	No comment
TRPC3	99.48	No comment
TSEN2	100.00	No comment
TSEN34	100.00	No comment
TSEN54	91.60	No comment
TSFM	100.00	No comment
TTBK2	100.00	No comment
TTC19	100.00	No comment
TTC8	99.73	No comment
TTPA	96.80	No comment
TUBB4A	100.00	No comment
TUBG1	100.00	No comment
TYMP	100.00	No comment
UBA5	100.00	No comment
VAMP1	100.00	No comment
VLDLR	96.00	No comment
VPS13A	100.00	No comment
VPS13B	100.00	No comment
VPS13D	100.00	No comment
VRK1	100.00	No comment
VWA3B	100.00	No comment
WDPCP	99.11	No comment
WDR73	100.00	No comment
WDR81	99.63	No comment
WFS1	100.00	No comment
WWOX	100.00	No comment
XPA	98.10	No comment
XPC	100.00	No comment
XPR1	99.91	No comment
XRCC1	99.95	No comment
ZC4H2	100.00	No comment
ZFYVE26	100.00	No comment
ZNF423	100.00	No comment
ZNF592	100.00	No comment

Movement Disorders - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AARS1	99.99	1
ACTB	100.00	1
ACTL6B	99.90	1
ADAR	99.84	1
ADCY5	99.98	1
ADH1C	99.94	1
AFG3L2	99.97	1
ALDH5A1	96.19	1
ANO3	99.98	1
AP3D1	100.00	1
AP4M1	99.98	1
APTX	99.92	1
ARSA	99.99	1
ARV1	99.85	1
ARX	95.36	1
ATM	99.83	1
ATP13A2	99.96	1
ATP1A3	99.98	1
ATP6AP2	99.55	1
ATP7B	100.00	1
ATP8A2	100.00	1
ATXN2	99.88	1
AUH	99.95	1
BCAP31	99.95	1
BCS1L	99.99	1
C19ORF12	99.99	1
CACNA1A	99.98	1
CACNA1B	100.00	1
CACNA1E	99.82	1
CARS2	99.99	1
CHCHD2	99.89	1
CHMP2B	99.80	1
CHRNA4	100.00	1
CHRNB2	99.99	1
CIZ1	99.94	1
CLPB	99.97	1
CNTNAP1	99.98	1
COASY	99.98	1
COL6A3	99.99	1
COQ9	99.62	1
COX10	99.99	1
COX15	100.00	1
CP	99.95	1
CRAT	99.99	1
CSF1R	99.92	1
CTC1	100.00	1
CYP27A1	100.00	1
DCAF17	99.84	1
DCTN1	99.98	1
DDC	99.67	1
DEGS1	99.99	1
DHDDS	98.65	1
DHX30	99.96	1
DLAT	99.65	1
DLD	99.89	1
DMXL2	99.86	1
DNAJC13	99.86	1
DNAJC5	99.99	1
DNAJC6	99.48	1
DNAL4	99.89	1
DRD3	100.00	1
EARS2	99.96	1
ECHS1	100.00	1
EEF1A2	100.00	1
EIF4G1	100.00	1
EPRS1	99.53	1
ETHE1	84.97	1
FA2H	99.98	1
FASTKD2	99.93	1
FBXO7	99.98	1
FITM2	99.99	1
FOXG1	99.91	1
FOXRED1	100.00	1
FTL	99.99	1
FUCA1	98.72	1
FUS	99.93	1
GABRB2	99.92	1
GAMT	100.00	1
GBA1	96.92	1
GBE1	99.73	1
GCDH	100.00	1
GCH1	99.94	1
GFAP	99.99	1
GFM2	99.87	1
GIGYF2	99.94	1
GJC2	100.00	1
GLB1	100.00	1
GRID2	100.00	1
GM2A	100.00	1
GNAL	100.00	1
GNAO1	99.86	1
GNB1	100.00	1
GPR88	100.00	1
GRIN1	100.00	1
GRIN2B	99.99	1
GRN	100.00	1
GSX2	100.00	1
GTPBP2	99.98	1
HEXA	99.99	1
HIBCH	99.70	1
HPRT1	97.80	1
HSD17B10	99.98	1
HTRA2	99.99	1
HTT	99.98	1
IFIH1	99.84	1
IREB2	99.90	1
IRF2BPL	99.21	1
JAM2	91.82	1
JPH3	100.00	1
KCNA4	100.00	1
KCNMA1	99.89	1
KCNQ2	100.00	1
KCTD17	100.00	1
KMT2B	99.99	1
LIPT1	99.89	1
LIPT2	99.99	1
LRP10	99.99	1
LRPPRC	99.80	1
LRRK2	99.44	1
LYST	99.87	1
MAPT	99.80	1
MAT1A	99.70	1
MCOLN1	100.00	1
MDH2	99.54	1
MECP2	99.95	1
MECR	99.63	1
MED20	99.99	1
MICU1	99.56	1
MMADHC	99.76	1
MPV17	99.98	1
MRE11	99.93	1
MRPS34	100.00	1
MYBPC1	99.77	1
MYORG	99.99	1
NAXD	99.99	1
NDUFA1	99.93	1
NDUFA10	99.98	1
NDUFA12	99.21	1
NDUFA9	100.00	1
NDUFAF4	99.95	1
NDUFAF6	99.86	1
NDUFS1	99.79	1
NDUFS3	100.00	1
NDUFS7	99.99	1
NDUFS8	100.00	1
NHLRC2	99.83	1
NKX2-1	100.00	1
NKX6-2	100.00	1
NPC1	99.99	1
NPC2	100.00	1
NTNG2	99.98	1
NUP62	100.00	1
PANK2	99.99	1
PARK7	99.93	1
PCCA	99.90	1
PCCB	99.97	1
PCDH12	100.00	1
PCDH19	99.98	1
PDE10A	87.37	1
PDE8B	99.98	1
PDGFB	99.99	1
PDGFRB	99.99	1
PDHA1	99.04	1
PDHX	99.64	1
PEAR1	99.89	1
PEX16	99.94	1
PINK1	99.69	1
PLA2G6	99.98	1
PLEKHG2	99.99	1
PLP1	99.98	1
PMPCB	99.94	1
PNKD	100.00	1
PNKP	100.00	1
PNPLA8	99.92	1
PNPT1	99.56	1
PODXL	93.29	1
POLG	100.00	1
POLR3A	99.97	1
PON1	99.70	1
PRKN	99.99	1
PRKRA	99.94	1
PRNP	100.00	1
PRRT2	99.97	1
PTRHD1	100.00	1
PTS	99.93	1
QDPR	99.92	1
RAB11B	100.00	1
RAB39B	99.99	1
RAD51	90.17	1
RELN	99.98	1
REPS1	99.93	1
RHOBTB2	100.00	1
RIC3	100.00	1
RNF216	99.99	1
SCN11A	99.94	1
SCN4A	99.98	1
SCN8A	99.77	1
SCP2	94.94	1
SDHA	99.98	1
SDHAF1	99.99	1
SDHD	82.93	1
SEPSECS	99.78	1
SERAC1	99.90	1
SETX	99.97	1
SGCE	93.12	1
SLC18A2	100.00	1
SLC19A3	99.95	1
SLC20A2	99.95	1
SLC25A42	99.99	1
SLC2A1	99.93	1
SLC30A10	99.99	1
SLC30A9	99.75	1
SLC39A14	92.87	1
SLC44A1	99.90	1
SLC6A3	99.96	1
SLC6A8	99.99	1
SMPD1	100.00	1
SNCA	99.97	1
SNCAIP	99.99	1
SPG11	99.89	1
SPR	99.99	1
SQSTM1	100.00	1
STUB1	99.99	1
SUCLA2	99.96	1
SUOX	100.00	1
SURF1	100.00	1
SYNJ1	99.91	1
SYT1	99.70	1
TAF1	99.84	1
TANGO2	99.85	1
TBC1D24	100.00	1
TENM4	99.99	1
TH	99.99	1
THAP1	99.96	1
TIMM8A	100.00	1
TOR1A	100.00	1
TPI1	99.95	1
TPK1	99.96	1
TRAK1	99.98	1
TRAPPC11	99.93	1
TRAPPC12	99.96	1
TRIT1	99.25	1
TSEN2	99.98	1
TSFM	100.00	1
TUBB4A	100.00	1
TXN2	99.88	1
UBA5	99.95	1
UBTF	99.99	1
UCHL1	99.99	1
UFM1	99.25	1
UGDH	99.77	1
UQCRQ	99.96	1
VAC14	99.91	1
VAMP2	100.00	1
VCP	99.99	1
VPS13A	99.68	1
VPS13C	99.65	1
VPS13D	99.96	1
VPS16	100.00	1
VPS35	99.83	1
WARS2	97.72	1
WDR45	99.99	1
WDR73	99.92	1
XK	99.98	1
XPR1	99.13	1
YY1	100.00	1
ZC4H2	99.98	1
ZNF142	100.00	1

Movement Disorders - ULG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AARS1	100.00	0
ABAT	100.00	0
ACTB	100.00	0
ACTL6B	100.00	0
ADAR	100.00	0
ADCY5	94.82	0
ADPRS	97.19	0
AFG3L2	95.73	0
AGTPBP1	97.48	0
AIMP1	100.00	0
ALDH5A1	91.82	0
ALG13	99.52	0
ALG6	100.00	0
ALS2	100.00	0
AMT	100.00	0
ANO3	99.99	0
AOPEP	98.17	0
AP3D1	100.00	0
AP4M1	100.00	0
AP5Z1	100.00	0
APTX	100.00	0
ARG1	100.00	0
ARHGEF9	100.00	0
ARSA	100.00	0
ARV1	100.00	0
ARX	76.27	0
ASAH1	100.00	0
ASNS	100.00	0
ASS1	100.00	0
ATAD1	100.00	0
ATCAY	100.00	0
ATM	100.00	0
ATN1	100.00	0
ATP13A2	99.13	0
ATP1A2	99.91	0
ATP1A3	100.00	0
ATP6AP2	98.93	0
ATP7B	100.00	0
ATP8A2	100.00	0
ATXN2	97.08	0
AUH	98.84	0
BCAP31	100.00	0
BCKDHA	100.00	0
BCKDHB	100.00	0
BCS1L	100.00	0
BSCL2	100.00	0
BTK	100.00	0
C19ORF12	100.00	0
C9ORF72	100.00	0
CA8	100.00	0
CACNA1A	100.00	0
CACNA1B	95.99	0
CACNA1E	99.97	0
CACNA1G	100.00	0
CACNB4	100.00	0
CARS2	95.22	0
CBS	100.00	0
CDKL5	99.33	0
CEP290	99.99	0
CHCHD2	100.00	0
CHMP2B	100.00	0
CHRNA2	99.97	0
CHRNA4	99.98	0
CHRNB2	100.00	0
CIZ1	99.96	0
CLCN2	100.00	0
CLCN3	100.00	0
CLCN6	100.00	0
CLPB	100.00	0
CLTC	100.00	0
CNTNAP1	100.00	0
COASY	100.00	0
COL6A3	100.00	0
COQ8A	100.00	0
COQ9	100.00	0
COX10	100.00	0
COX15	100.00	0
COX20	100.00	0
CP	99.98	0
CRAT	100.00	0
CRH	100.00	0
CRLF1	89.13	0
CSF1R	100.00	0
CSTB	100.00	0
CTC1	100.00	0
CTDP1	90.20	0
CTNNB1	100.00	0
CTSA	100.00	0
CTSD	100.00	0
CTSF	89.18	0
CUL4B	98.64	0
CWF19L1	100.00	0
CYB5R3	95.77	0
CYFIP2	100.00	0
CYP27A1	99.38	0
DARS1	100.00	0
DBT	100.00	0
DCAF17	99.11	0
DCC	100.00	0
DCTN1	100.00	0
DDC	100.00	0
DEGS1	100.00	0
DEPDC5	100.00	0
DHDDS	100.00	0
DHX30	100.00	0
DLAT	100.00	0
DLD	100.00	0
DMXL2	99.99	0
DNAJB2	100.00	0
DNAJC12	100.00	0
DNAJC13	100.00	0
DNAJC19	100.00	0
DNAJC5	100.00	0
DNAJC6	100.00	0
DNAL4	100.00	0
DNM1L	100.00	0
DNMT1	99.83	0
EARS2	100.00	0
ECHS1	100.00	0
EEF1A2	98.47	0
ELOVL4	100.00	0
EPRS1	100.00	0
ETHE1	100.00	0
FA2H	92.84	0
FARS2	100.00	0
FASTKD2	100.00	0
FBXL4	100.00	0
FBXO7	100.00	0
FGF14	100.00	0
FITM2	100.00	0
FOLR1	100.00	0
FOXG1	87.63	0
FOXRED1	100.00	0
FRRS1L	87.33	0
FTL	100.00	0
FUCA1	99.67	0
FUS	100.00	0
FXN	96.07	0
GABRA2	100.00	0
GABRB2	100.00	0
GALT	100.00	0
GAMT	98.07	0
GBA1	100.00	0
GBE1	100.00	0
GCDH	100.00	0
GCH1	98.16	0
GFAP	100.00	0
GFM1	100.00	0
GFM2	99.99	0
GJC2	88.27	0
GLB1	100.00	0
GLDC	97.21	0
GLRA1	100.00	0
GLRB	100.00	0
GM2A	100.00	0
GNAL	100.00	0
GNAO1	100.00	0
GNB1	100.00	0
GOSR2	100.00	0
GPHN	100.00	0
GPR88	77.04	0
GRID2	100.00	0
GRIN1	100.00	0
GRIN2B	100.00	0
GRN	100.00	0
GSX2	100.00	0
GTPBP2	99.48	0
HECW2	100.00	0
HEXA	100.00	0
HEXB	99.87	0
HIBCH	100.00	0
HPRT1	97.15	0
HSD17B10	100.00	0
HTT	99.18	0
IFIH1	100.00	0
IREB2	100.00	0
IRF2BPL	99.88	0
IVD	100.00	0
JAM2	100.00	0
JPH3	100.00	0
KCNA1	100.00	0
KCNA2	100.00	0
KCNA4	100.00	0
KCNC3	78.67	0
KCND3	100.00	0
KCNMA1	100.00	0
KCNQ2	100.00	0
KCNT1	99.92	0
KCTD17	95.63	0
KCTD7	99.64	0
KIF1C	100.00	0
KIF5A	100.00	0
KMT2B	96.75	0
L2HGDH	100.00	0
LIAS	100.00	0
LIPT1	100.00	0
LIPT2	92.08	0
LMNB1	98.51	0
LRPPRC	100.00	0
LRRK2	100.00	0
LYST	100.00	0
MAPT	100.00	0
MARS2	100.00	0
MCEE	100.00	0
MCOLN1	98.10	0
MDH2	100.00	0
MECP2	100.00	0
MECR	100.00	0
MED20	100.00	0
MEF2C	100.00	0
MFSD8	100.00	0
MICU1	100.00	0
MMAA	100.00	0
MMAB	100.00	0
MMADHC	100.00	0
MMUT	100.00	0
MPV17	100.00	0
MRE11	100.00	0
MRPS34	99.28	0
MTHFR	100.00	0
MTR	100.00	0
MTRFR	100.00	0
MTRR	100.00	0
MYBPC1	100.00	0
MYORG	100.00	0
NALCN	100.00	0
NAXD	100.00	0
NDUFA1	100.00	0
NDUFA10	99.52	0
NDUFA12	100.00	0
NDUFA2	100.00	0
NDUFA9	100.00	0
NDUFAF2	100.00	0
NDUFAF4	100.00	0
NDUFAF5	100.00	0
NDUFAF6	95.34	0
NDUFS1	100.00	0
NDUFS3	100.00	0
NDUFS4	100.00	0
NDUFS7	100.00	0
NDUFS8	100.00	0
NDUFV1	100.00	0
NEU1	100.00	0
NGLY1	100.00	0
NHLRC2	100.00	0
NKX2-1	89.99	0
NKX6-2	70.62	0
NPC1	100.00	0
NPC2	100.00	0
NTN1	94.10	0
NTNG2	91.87	0
NUP62	100.00	0
MED12	100.00	0
OPA3	100.00	0
PAH	100.00	0
PANK2	95.70	0
PARK7	100.00	0
PODXL	96.85	0
PCBD1	92.74	0
PCCA	100.00	0
PCCB	100.00	0
PCDH12	100.00	0
PCDH19	100.00	0
PDE10A	100.00	0
PDE2A	100.00	0
PDE8B	97.56	0
PDGFB	100.00	0
PDGFRB	100.00	0
PDHA1	100.00	0
PDHB	100.00	0
PDHX	100.00	0
PDYN	100.00	0
PEX16	100.00	0
PGK1	100.00	0
PIGP	100.00	0
PINK1	91.10	0
PLA2G6	100.00	0
PLEKHG2	100.00	0
PLP1	100.00	0
PMM2	100.00	0
PMPCB	100.00	0
PNKD	100.00	0
PNKP	100.00	0
PNPLA8	100.00	0
PNPT1	100.00	0
POLG	100.00	0
POLR1C	100.00	0
POLR3A	100.00	0
PPT1	100.00	0
PRICKLE1	100.00	0
PRKCG	100.00	0
PRKN	100.00	0
PRKRA	100.00	0
PRNP	100.00	0
PRRT2	100.00	0
PTRHD1	100.00	0
PTS	100.00	0
PUM1	100.00	0
PURA	88.25	0
QDPR	99.38	0
RAB11B	100.00	0
RAB39B	100.00	0
RAD51	100.00	0
RELN	100.00	0
REPS1	100.00	0
RHOBTB2	100.00	0
RNF216	100.00	0
SACS	100.00	0
SCARB2	100.00	0
SCN11A	99.99	0
SCN1A	100.00	0
SCN2A	100.00	0
SCN4A	100.00	0
SCN8A	100.00	0
SCP2	100.00	0
SCYL1	100.00	0
SDHA	98.70	0
SDHAF1	96.31	0
SDHD	100.00	0
SEPSECS	100.00	0
SERAC1	100.00	0
SETD5	100.00	0
SETX	100.00	0
SGCE	100.00	0
SLC16A2	100.00	0
SLC18A2	100.00	0
SLC19A3	99.96	0
SLC1A3	100.00	0
SLC20A2	100.00	0
SLC25A19	100.00	0
SLC25A42	99.96	0
SLC2A1	100.00	0
SLC30A10	100.00	0
SLC30A9	100.00	0
SLC39A14	99.95	0
SLC39A8	99.72	0
SLC44A1	97.36	0
SLC6A1	100.00	0
SLC6A3	100.00	0
SLC6A5	100.00	0
SLC6A8	96.54	0
SLC9A6	97.84	0
SMPD1	100.00	0
SNCA	100.00	0
SPG11	100.00	0
SPOP	100.00	0
SPR	97.94	0
SPTBN2	100.00	0
SQSTM1	95.44	0
SRD5A3	98.74	0
ST3GAL5	92.43	0
STUB1	99.46	0
STXBP1	100.00	0
SUCLA2	100.00	0
SUCLG1	99.97	0
SUMF1	100.00	0
SUOX	100.00	0
SURF1	92.90	0
SYNE1	100.00	0
SYNJ1	100.00	0
SYT1	100.00	0
TACO1	99.96	0
TAF1	100.00	0
TANGO2	100.00	0
TARDBP	100.00	0
TBC1D24	100.00	0
TBK1	100.00	0
TBL1XR1	100.00	0
TENM4	100.00	0
TGM6	100.00	0
TH	100.00	0
THAP1	100.00	0
TIMM8A	100.00	0
TMEM240	100.00	0
TOR1A	100.00	0
TPI1	100.00	0
TPK1	100.00	0
TRAK1	100.00	0
TRAPPC11	100.00	0
TRAPPC12	100.00	0
TREM2	100.00	0
TRIT1	100.00	0
TSC1	100.00	0
TSC2	100.00	0
TSEN2	100.00	0
TSEN54	94.95	0
TSFM	92.64	0
TTPA	87.42	0
TUBB4A	100.00	0
TXN2	100.00	0
TYROBP	100.00	0
UBA5	100.00	0
UBQLN2	99.91	0
UBR4	99.78	0
UBTF	100.00	0
UFM1	100.00	0
UGDH	100.00	0
UNC13A	99.92	0
UQCRQ	100.00	0
VAC14	100.00	0
VAMP1	100.00	0
VAMP2	100.00	0
VCP	98.45	0
VPS13A	100.00	0
VPS13C	100.00	0
VPS13D	100.00	0
VPS16	100.00	0
VPS35	100.00	0
VPS41	100.00	0
VPS4A	100.00	0
VWA3B	100.00	0
WARS2	100.00	0
WDR45	100.00	0
WDR73	100.00	0
WDR81	100.00	0
WWOX	100.00	0
XK	99.86	0
XPA	99.77	0
XPC	100.00	0
XPR1	100.00	0
YY1	100.00	0
ZC4H2	100.00	0
ZFYVE26	100.00	0
ZNF142	100.00	0

Neurodegeneration (99 genes) - IPG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ANG	100.00	1	NM_001145.4
ANXA11	100.00	1	NM_145868.2
APP	100.00	1	NM_000484.4
ATP13A2	100.00	1	NM_022089.4
CHMP2B	100.00	1	NM_014043.4
DCTN1	100.00	1	NM_004082.4
ERBB4	100.00	1	NM_005235.3
FIG4	100.00	1	NM_014845.6
FUS	100.00	1	NM_004960.4
GBA1	100.00	1	NM_000157.4
GRN	100.00	1	NM_002087.3
KIF5A	100.00	1	NM_004984.4
LRRK2	100.00	1	NM_198578.4
MAPT	100.00	1	NM_001123066.3
MATR3	100.00	1	NM_018834.6
NEFH	100.00	1	NM_021076.4
NEK1	100.00	1	NM_001199397.3
NOTCH3	100.00	1	NM_000435.3
OPTN	100.00	1	NM_001008212.2
PARK7	100.00	1	NM_007262.5
PFN1	100.00	1	NM_005022.4
PINK1	100.00	1	NM_032409.3
PRKN	100.00	1	NM_004562.3
PRNP	100.00	1	NM_000311.5
PRPH	100.00	1	NM_006262.4
PSEN1	100.00	1	NM_000021.4
PSEN2	100.00	1	NM_000447.3
SETX	100.00	1	NM_015046.7
SIGMAR1	100.00	1	NM_005866.4
SNCA	100.00	1	NM_000345.4
SOD1	100.00	1	NM_000454.5
SPG11	100.00	1	NM_025137.4
TARDBP	100.00	1	NM_007375.4
TUBA4A	100.00	1	NM_006000.3
UBQLN2	100.00	1	NM_013444.3
VAPB	100.00	1	NM_004738.5
VCP	100.00	1	NM_007126.5
AARS2	100.00	1	NM_020745.4
ABAT	100.00	1	NM_020686.6
ABCB7	100.00	1	NM_001271696.3
ABCD1	100.00	1	NM_000033.4
ADPRS	100.00	1	NM_017825.3
AFG3L2	100.00	1	NM_006796.3
AP5Z1	100.00	1	NM_014855.3
APOE	100.00	1	NM_000041.4
ARSA	100.00	1	NM_000487.6
ATP1A3	100.00	1	NM_152296.5
ATP6AP2	100.00	1	NM_005765.3
C19ORF12	100.00	1	NM_031448.6
C9ORF72	100.00	1	NM_018325.5
CCNF	100.00	1	NM_001761.3
CHCHD10	100.00	1	NM_213720.3
CHCHD2	100.00	1	NM_016139.4
CLN3	100.00	1	NM_001042432.2
CLN5	100.00	1	NM_006493.4
CLN6	100.00	1	NM_017882.3
CLN8	100.00	1	NM_018941.4
COA7	100.00	1	NM_023077.3
COASY	100.00	1	NM_025233.7
CRAT	100.00	1	NM_000755.5
CSF1R	100.00	1	NM_005211.3
CTSD	100.00	1	NM_001909.5
CTSF	100.00	1	NM_003793.4
DNAJC13	100.00	1	NM_015268.4
DNAJC5	100.00	1	NM_025219.3
DNAJC6	100.00	1	NM_001256864.2
EIF4G1	100.00	1	NM_198241.3
FA2H	100.00	1	NM_024306.5
FBXO7	100.00	1	NM_012179.4
FTL	100.00	1	NM_000146.4
FXN	100.00	1	NM_000144.5
GCH1	100.00	1	NM_000161.3
GIGYF2	100.00	1	NM_001103146.3
GLUD2	100.00	1	NM_012084.4
GRID2	100.00	1	NM_001510.4
IREB2	100.00	1	NM_004136.4
ITM2B	100.00	1	NM_021999.5
KLC4	100.00	1	NM_201521.3
MFSD8	100.00	1	NM_001371596.2
NPC1	100.00	1	NM_000271.5
NPC2	100.00	1	NM_006432.5
PANK2	100.00	1	NM_153638.3
PGAP1	100.00	1	NM_024989.4
PLA2G6	100.00	1	NM_003560.4
PODXL	94.00	1	NM_001018111.3
POLG	100.00	1	NM_001126131.2
PPT1	100.00	1	NM_000310.4
RAB18	100.00	1	NM_021252.5
REPS1	100.00	1	NM_001286611.1
SLC6A3	100.00	1	NM_001044.5
SPG21	100.00	1	NM_016630.7
SQSTM1	100.00	1	NM_003900.5
SYNJ1	100.00	1	NM_003895.3
TBK1	100.00	1	NM_013254.4
UBTF	100.00	1	NM_014233.4
UCHL1	100.00	1	NM_004181.5
VPS13C	100.00	1	NM_020821.3
VPS35	100.00	1	NM_018206.6
WDR45	100.00	1	NM_001029896.2

Neurodegeneration with Brain Iron Accumulation (NBIA) - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AP4M1	100.00	1
ATP13A2	100.00	1
C19ORF12	100.00	1
COASY	100.00	1
CP	100.00	1
CRAT	100.00	1
DCAF17	100.00	1
DDHD1	100.00	1
FA2H	100.00	1
FTL	100.00	1
GTPBP2	100.00	1
PANK2	100.00	1
PLA2G6	100.00	1
SCP2	100.00	1
WDR45	100.00	1
REPS1	100.00	1