MARS1 | Belgian Genetic Tests database

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Name:	methionyl-tRNA synthetase 1
Symbol:	MARS1
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	CMT2U MetRS SPG70 methionine tRNA ligase 1, cytoplasmic
XREF(s):	Orphanet HGNC OMIM Reactome SwissProt Ensembl Genatlas
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

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Inherited Peripheral Neuropathies gene panel (139 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AARS1	100.00	NM_001605.2
ABCD1	100.00	NM_000033.3
ABHD12	98.00	NM_001042472.2
AGTPBP1	99.90	NM_001286715.1
AIFM1	100.00	NM_004208.3
APTX	99.00	NM_175073.2
ARHGEF10	100.00	NM_014629.3
ATL1	100.00	NM_015915.4
ATL3	100.00	NM_015459.4
ATP1A1	100.00	NM_000701.7
ATP7A	100.00	NM_000052.6
BAG3	100.00	NM_004281.3
BICD2	100.00	NM_001003800.1
BSCL2	100.00	NM_032667.6
MTRFR	100.00	NM_152269.4
CCT5	100.00	NM_012073.4
CD59	100.00	NM_203330.2
CNTNAP1	100.00	NM_003632.2
COA7	100.00	NM_023077.2
COX6A1	100.00	NM_004373.3
CTDP1	98.90	NM_004715.4
DCAF8	100.00	NM_015726.3
DCTN1	100.00	NM_004082.4
DGAT2	100.00	NM_032564.4
DHTKD1	99.90	NM_018706.6
DNAJB2	100.00	NM_001039550.1
DNM2	100.00	NM_001005360.2
DNMT1	99.50	NM_001130823.2
DRP2	100.00	NM_001939.2
DST	100.00	NM_001723.5
DYNC1H1	100.00	NM_001376.4
EGR2	100.00	NM_000399.4
ELP1	100.00	NM_003640.4
FBLN5	100.00	NM_006329.3
FBXO38	100.00	NM_030793.4
FGD4	100.00	NM_139241.3
FIG4	100.00	NM_014845.5
FLVCR1	100.00	NM_014053.3
GAN	100.00	NM_022041.3
GARS1	100.00	NM_002047.3
GDAP1	100.00	NM_018972.3
GJB1	100.00	NM_000166.5
GJB3	100.00	NM_024009.2
GLA	100.00	NM_000169.2
GNB4	100.00	NM_021629.3
HADHA	100.00	NM_000182.4
HADHB	100.00	NM_000183.2
HARS1	100.00	NM_002109.5
HINT1	100.00	NM_005340.6
HK1	100.00	NM_000188.2
HOXD10	100.00	NM_002148.3
HSPB1	99.00	NM_001540.4
HSPB3	100.00	NM_006308.2
HSPB8	100.00	NM_014365.2
IARS2	100.00	NM_018060.3
IFRD1	99.90	NM_001550.3
IGHMBP2	100.00	NM_002180.2
INF2	98.80	NM_022489.3
ITPR3	99.50	NM_002224.3
KARS1	100.00	NM_001130089.1
KIF1A	99.90	NM_004321.7
KIF1B	100.00	NM_015074.3
KIF5A	100.00	NM_004984.3
KLHL13	100.00	NM_033495.3
LITAF	100.00	NM_004862.3
LMNA	99.90	NM_170707.3
LRSAM1	100.00	NM_138361.5
MARS1	100.00	NM_004990.3
MCM3AP	100.00	NM_003906.4
MED25	100.00	NM_030973.3
MFN2	100.00	NM_014874.3
MME	100.00	NM_007289.3
MORC2	100.00	NM_001303256.2
MPV17	100.00	NM_002437.4
MPZ	100.00	NM_000530.7
MTMR2	100.00	NM_016156.5
MYH7B	99.80	NM_024729.3
NAGLU	99.70	NM_000263.3
NDRG1	100.00	NM_006096.3
NEFH	99.50	NM_021076.3
NEFL	99.60	NM_006158.4
NGF	100.00	NM_002506.2
NTRK1	100.00	NM_001012331.1
MED12	100.00	NM_015560.2
OPA3	100.00	NM_025136.3
PDK3	100.00	NM_001142386.2
PDXK	100.00	NM_003681.4
PEX1	100.00	NM_000466.2
PEX7	100.00	NM_000288.3
PHYH	100.00	NM_006214.3
PLEKHG5	99.80	NM_020631.4
PMP2	100.00	NM_002677.4
PMP22	100.00	NM_000304.3
PNKP	99.80	NM_007254.3
POLG	100.00	NM_002693.2
PRDM12	90.30	NM_021619.2
PRNP	100.00	NM_000311.4
PRPS1	100.00	NM_002764.3
PRX	100.00	NM_181882.2
RAB7A	100.00	NM_004637.5
REEP1	100.00	NM_022912.2
RETREG1	99.40	NM_001034850.2
SBF1	99.70	NM_002972.3
SBF2	100.00	NM_030962.3
SCN10A	100.00	NM_006514.3
SCN11A	99.80	NM_014139.2
SCN9A	100.00	NM_002977.3
SCO2	100.00	NM_005138.2
SCP2	100.00	NM_002979.4
SEPTIN9	99.20	NM_006640.4
SETX	100.00	NM_015046.6
SGPL1	100.00	NM_003901.3
SH3BP4	100.00	NM_014521.2
SH3TC2	100.00	NM_024577.3
SIGMAR1	100.00	NM_005866.3
SLC12A6	100.00	NM_133647.1
SLC25A46	100.00	NM_138773.3
SLC5A7	100.00	NM_021815.4
SORD	91.20	NM_003104.5
SOX10	100.00	NM_006941.3
SPG11	100.00	NM_025137.3
SPTLC1	100.00	NM_006415.3
SPTLC2	100.00	NM_004863.3
SURF1	99.00	NM_003172.3
TDP1	100.00	NM_018319.3
TECPR2	100.00	NM_014844.4
TFG	100.00	NM_006070.5
TRIM2	100.00	NM_001130067.1
TRPA1	100.00	NM_007332.2
TRPV4	99.90	NM_021625.4
TTR	100.00	NM_000371.3
TUBB3	100.00	NM_006086.3
TWNK	100.00	NM_021830.4
TYMP	100.00	NM_001953.4
VCP	99.90	NM_007126.4
VRK1	100.00	NM_003384.2
WARS1	99.80	NM_004184.3
WNK1	99.80	NM_018979.3
YARS1	100.00	NM_003680.3

Ataxia Spasticity - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AAAS	99.88	1
AARS1	99.99	1
ABCA2	100.00	1
ABCB7	99.58	1
ABCD1	99.98	1
ABHD12	99.98	1
ACO2	99.99	1
ADAR	99.84	1
ADGRG1	99.90	1
ADPRS	99.94	1
AFG3L2	99.97	1
AGTPBP1	99.68	1
AHI1	99.86	1
AIFM1	99.92	1
AIMP1	99.97	1
ALDH18A1	99.96	1
ALDH5A1	96.19	1
ALG6	93.37	1
ALS2	99.87	1
AMPD2	99.91	1
ANO10	99.93	1
AP4B1	96.92	1
AP4E1	99.94	1
AP4M1	99.98	1
AP4S1	87.89	1
AP5Z1	100.00	1
APOB	99.99	1
APTX	99.92	1
ARG1	99.95	1
ARL13B	99.53	1
ARL6IP1	99.51	1
ARSA	99.99	1
ARSI	100.00	1
ARX	95.36	1
ASPA	99.98	1
ATCAY	100.00	1
ATG5	99.81	1
ATL1	99.95	1
ATM	99.83	1
ATP13A2	99.96	1
ATP1A3	99.98	1
ATP2B3	99.98	1
ATP7B	100.00	1
ATP8A2	100.00	1
AUH	99.95	1
B4GALNT1	99.97	1
BCKDHA	99.97	1
BCKDHB	99.73	1
BCL11B	100.00	1
BCS1L	99.99	1
BICD2	99.99	1
BSCL2	99.99	1
BTD	100.00	1
C19ORF12	99.99	1
CA8	99.71	1
CACNA1A	98.16	1
CACNA1E	99.82	1
CACNA1G	99.95	1
CACNB4	99.20	1
CAMTA1	99.97	1
CAPN1	99.99	1
CC2D2A	99.95	1
CCDC88C	100.00	1
CCT5	99.99	1
CDK16	99.99	1
CEP290	98.10	1
CHP1	99.90	1
CLCN2	100.00	1
CNTNAP1	99.98	1
COA7	99.91	1
COQ2	99.90	1
COQ4	100.00	1
COQ8A	100.00	1
COQ9	99.62	1
COX10	99.99	1
COX15	100.00	1
COX20	99.67	1
CP	99.95	1
CPT1C	99.99	1
CSTB	100.00	1
CTBP1	99.98	1
CWF19L1	99.91	1
CYP27A1	100.00	1
CYP2U1	99.99	1
CYP7B1	99.82	1
DAB1	97.87	1
DARS1	98.85	1
DARS2	98.31	1
DBT	94.51	1
DDHD1	99.93	1
DDHD2	99.97	1
DDX3X	99.01	1
DEGS1	99.99	1
DLAT	99.65	1
DLD	99.89	1
DNAJC19	99.76	1
DNAJC3	99.92	1
DNAJC5	99.99	1
DNMT1	99.13	1
DOCK3	99.96	1
EARS2	99.96	1
EBF3	99.99	1
ECHS1	100.00	1
EEF2	99.95	1
EIF2AK1	99.90	1
ELOVL1	100.00	1
ELOVL4	99.91	1
ELOVL5	99.87	1
EMC1	99.85	1
ENTPD1	99.98	1
EPM2A	99.99	1
ERCC1	99.96	1
ERCC4	99.92	1
ERCC8	99.79	1
ERLIN1	99.98	1
ERLIN2	99.94	1
EXOSC3	100.00	1
FA2H	99.98	1
FARS2	100.00	1
FASTKD2	99.93	1
FAT2	99.99	1
FGF14	99.99	1
FITM2	99.99	1
FLRT1	100.00	1
FLVCR1	99.91	1
FOLR1	100.00	1
FRMD4A	100.00	1
FRMD7	99.97	1
GALC	99.92	1
GAN	99.98	1
GBA2	99.99	1
GBE1	99.73	1
GDAP2	95.02	1
GFAP	99.99	1
GFM2	99.87	1
GJC2	100.00	1
GLB1	100.00	1
GLRX5	100.00	1
GLS	99.78	1
GM2A	100.00	1
GOSR2	98.92	1
GPR143	99.60	1
GRID2	99.97	1
GRIN1	100.00	1
GRM1	100.00	1
GRN	100.00	1
GSX2	100.00	1
HACE1	99.76	1
HEXA	99.99	1
HEXB	99.91	1
HSD17B10	99.98	1
HSD17B4	99.71	1
HSPD1	83.42	1
IBA57	100.00	1
IFIH1	99.84	1
IFRD1	99.67	1
IFT140	100.00	1
INTS8	99.89	1
IRF2BPL	99.21	1
ISCA1	99.79	1
ITM2B	99.85	1
ITPR1	99.98	1
JAM2	91.82	1
KANK1	99.99	1
KCNA1	100.00	1
KCNA2	99.99	1
KCNA4	100.00	1
KCNC3	99.98	1
KCND3	99.98	1
KCNJ10	99.98	1
KCNJ6	100.00	1
KCNMA1	99.89	1
KCNQ2	100.00	1
KCTD7	99.98	1
KIDINS220	99.94	1
KIF1A	99.96	1
KIF1C	99.99	1
KIF5A	99.91	1
KLC2	100.00	1
L1CAM	99.98	1
L2HGDH	99.92	1
LAMA1	99.98	1
LAMB1	99.87	1
LIPT2	99.99	1
LYRM7	99.98	1
LYST	99.87	1
ERCC2	99.99	1
MAN2B1	99.99	1
MARS1	99.97	1
MARS2	100.00	1
MCOLN1	100.00	1
MECP2	99.95	1
MLC1	99.99	1
MMADHC	99.76	1
MME	97.17	1
MPV17	99.98	1
MRE11	99.93	1
MRPS34	100.00	1
MSTO1	76.34	1
MTCL1	100.00	1
MTPAP	99.97	1
MTRFR	99.87	1
MTTP	99.92	1
MYORG	99.99	1
NANS	100.00	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
NEFL	100.00	1
NEU1	99.98	1
NEXMIF	99.99	1
NF2	100.00	1
NHLRC1	100.00	1
NIPA1	99.91	1
NKX6-2	100.00	1
NOL3	100.00	1
NPC1	99.99	1
NPC2	100.00	1
NT5C2	99.96	1
NTNG2	99.98	1
NUP93	99.87	1
NUS1	99.90	1
OCLN	82.91	1
OFD1	99.68	1
MED12	99.95	1
OPA3	100.00	1
OPHN1	99.92	1
OTC	99.42	1
PARS2	99.99	1
PODXL	99.99	1
PCDH12	100.00	1
PCYT2	100.00	1
PDHA1	99.04	1
PDHX	99.64	1
PDYN	100.00	1
PEX10	100.00	1
PEX16	99.94	1
PEX7	99.72	1
PGAP1	99.56	1
PHYH	100.00	1
PIK3R5	99.99	1
PLA2G6	99.98	1
PLAA	99.79	1
PLD3	99.99	1
PLP1	99.98	1
PMM2	99.93	1
PMPCA	99.99	1
PMPCB	99.94	1
PNKP	100.00	1
PNPLA6	99.99	1
POLG	100.00	1
POLR3A	99.97	1
POLR3B	99.94	1
PRF1	100.00	1
PRKCG	99.99	1
PRNP	100.00	1
PRPS1	99.95	1
PRRT2	99.97	1
PSAP	99.94	1
PSEN1	100.00	1
PTPN23	100.00	1
PTRH2	99.99	1
PUM1	98.14	1
RAB11B	100.00	1
RAB18	99.76	1
RAB3GAP1	99.73	1
RAB3GAP2	99.69	1
REEP1	99.97	1
REEP2	99.99	1
RETREG1	99.99	1
RNASEH2A	99.95	1
RNASEH2B	99.94	1
RNASEH2C	99.99	1
RNF168	99.97	1
RNF170	99.90	1
RNF216	99.99	1
RORA	99.97	1
RPGRIP1L	96.35	1
RTN2	99.98	1
RTN4IP1	99.98	1
RUBCN	100.00	1
SACS	99.97	1
SAMD9L	99.95	1
SAMHD1	99.98	1
SARS1	98.53	1
SCN8A	99.77	1
SCYL1	100.00	1
SDHA	99.98	1
SDHAF1	99.99	1
SDHD	82.93	1
SEPSECS	99.78	1
SETX	99.97	1
SIL1	99.95	1
SLC13A5	99.99	1
SLC16A2	99.97	1
SLC17A5	99.71	1
SLC19A3	99.95	1
SLC1A3	99.98	1
SLC1A4	99.97	1
SLC25A15	100.00	1
SLC25A46	99.88	1
SLC2A1	99.93	1
SLC33A1	99.67	1
SLC44A1	99.90	1
SLC52A2	100.00	1
SLC52A3	99.94	1
SLC6A8	99.99	1
SLC9A1	99.96	1
SLC9A6	99.42	1
SMPD1	100.00	1
SNAP25	99.89	1
SNX14	99.73	1
SOX10	100.00	1
SPART	99.98	1
SPAST	99.77	1
SPG11	99.89	1
SPG21	99.97	1
SPG7	99.99	1
SPR	99.99	1
SPTAN1	99.96	1
SPTBN2	99.98	1
SQSTM1	100.00	1
SRD5A3	99.94	1
STUB1	99.99	1
SUCLA2	99.96	1
SUOX	100.00	1
SURF1	100.00	1
SVBP	99.04	1
SYNE1	99.95	1
SYT14	99.94	1
TANGO2	99.85	1
TBC1D20	100.00	1
TDP1	99.97	1
TDP2	99.97	1
TECPR2	99.96	1
TENM3	99.99	1
TFG	98.68	1
TGM6	99.99	1
THG1L	99.99	1
TMEM216	99.98	1
TMEM231	88.88	1
TMEM240	99.99	1
TMEM67	99.69	1
TMX2	99.99	1
ACD	99.99	1
TRAK1	99.98	1
TRAPPC12	99.96	1
TRAPPC4	100.00	1
TRIT1	99.25	1
TRPC3	99.97	1
TSEN2	99.98	1
TSEN54	100.00	1
TTBK2	99.93	1
TTC19	99.99	1
TTPA	99.88	1
TUBA1A	99.97	1
TUBB4A	100.00	1
TUBG1	99.95	1
TWNK	100.00	1
UBA5	99.95	1
UBAP1	99.51	1
UBTF	99.99	1
UCHL1	99.99	1
UFC1	99.35	1
UFM1	99.25	1
UGP2	99.85	1
USP8	99.67	1
VAMP1	100.00	1
VCP	99.99	1
VLDLR	99.99	1
VPS13B	99.90	1
VPS13D	99.96	1
VPS37A	99.96	1
VRK1	99.98	1
VWA3B	98.82	1
WARS2	97.72	1
WASHC5	99.98	1
WDR45B	100.00	1
WDR48	99.42	1
WDR73	99.92	1
WDR81	100.00	1
WWOX	100.00	1
XRCC1	99.96	1
ZC4H2	99.98	1
ZFR	99.94	1
ZFYVE26	100.00	1
ZFYVE27	99.99	1

Hepatology panel - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCB11	99.86	1
ABCB4	99.71	1
ABCC2	99.94	1
ABCD3	92.70	1
ABCG5	99.96	1
ABCG8	99.95	1
ACADM	96.14	1
ACADVL	100.00	1
ACAT1	99.81	1
ACOX2	99.81	1
ADK	99.78	1
AGL	97.67	1
AGPAT2	100.00	1
AKR1D1	99.91	1
ALAD	99.99	1
ALDOA	100.00	1
ALDOB	100.00	1
ALG8	95.49	1
ALG9	99.73	1
ALMS1	99.90	1
AMACR	100.00	1
ANKS6	100.00	1
AP1S1	99.49	1
ARG1	99.95	1
ASL	99.98	1
ASS1	77.52	1
ATP7B	100.00	1
ATP8B1	99.94	1
BAAT	99.98	1
BCS1L	99.99	1
BSCL2	99.99	1
BTD	100.00	1
CAVIN1	100.00	1
CC2D2A	99.95	1
CCDC115	99.90	1
CFTR	99.45	1
CLDN1	99.99	1
COG6	99.86	1
COG7	99.74	1
CYP21A2	99.91	1
CPT1A	99.98	1
CPT2	99.65	1
CREB3L3	99.98	1
CYP27A1	100.00	1
CYP7A1	99.99	1
CYP7B1	99.82	1
DCDC2	99.96	1
DGUOK	99.93	1
DHCR7	99.97	1
DKC1	99.59	1
DLD	99.89	1
DNAJB11	99.97	1
EHHADH	99.99	1
EIF2AK3	97.43	1
ENO3	100.00	1
EPHX1	99.97	1
EPM2A	99.99	1
ETFA	99.88	1
ETFB	100.00	1
FANCA	99.98	1
FARSA	100.00	1
FARSB	99.64	1
FBP1	100.00	1
FTH1	22.62	1
G6PC1	99.93	1
GAA	100.00	1
GALE	99.90	1
GALK1	100.00	1
GALM	100.00	1
GALT	100.00	1
GANAB	99.97	1
GBA1	96.92	1
GBE1	99.73	1
GFM1	99.95	1
GNAS	100.00	1
GUSB	95.07	1
GYS1	99.98	1
GYS2	99.86	1
HADHA	99.98	1
HAMP	99.99	1
HFE	100.00	1
HJV	99.99	1
HLCS	99.97	1
HNF1B	100.00	1
HSD17B4	99.71	1
HSD3B7	100.00	1
IARS1	99.89	1
IFT140	100.00	1
INVS	99.94	1
IVD	100.00	1
JAG1	100.00	1
KIF12	99.99	1
KRT18	47.42	1
KRT8	71.60	1
LAMP2	98.95	1
LARS1	99.87	1
LDHA	99.94	1
LIPA	99.96	1
LRP5	99.95	1
LSR	99.98	1
MARS1	99.97	1
MCEE	99.90	1
MKS1	99.92	1
MMUT	99.68	1
MPI	99.95	1
MPV17	99.98	1
MVK	99.97	1
MYO5B	100.00	1
NBAS	99.86	1
NEK9	99.99	1
NEU1	99.98	1
NGLY1	99.93	1
NHLRC1	100.00	1
NOTCH2	99.03	1
NPC1	99.99	1
NPC2	100.00	1
NPHP1	99.05	1
NPHP3	99.89	1
NPHP4	99.98	1
NR1H4	99.49	1
OXCT1	99.82	1
PODXL	99.99	1
PCCA	99.90	1
PCCB	99.97	1
PEX1	98.80	1
PEX10	100.00	1
PEX11B	99.62	1
PEX12	100.00	1
PEX13	99.36	1
PEX14	100.00	1
PEX16	99.94	1
PEX19	99.25	1
PEX2	100.00	1
PEX26	100.00	1
PEX3	99.85	1
PEX5	99.89	1
PEX6	99.99	1
PEX7	99.72	1
PFKM	99.57	1
PGAM2	100.00	1
PGK1	99.93	1
PGM1	96.77	1
PHKA1	99.84	1
PHKA2	99.92	1
PHKB	99.69	1
PHKG2	99.86	1
PKD1	99.98	1
PKD2	99.91	1
PKHD1	99.95	1
PMM2	99.93	1
PNPLA3	100.00	1
POLG	100.00	1
PPM1F	100.00	1
PRKAG2	99.96	1
PRKCSH	99.99	1
PYGL	99.99	1
PYGM	99.96	1
RBCK1	100.00	1
RINT1	99.99	1
RPGRIP1L	96.35	1
SBDS	99.93	1
SCO1	99.98	1
SEC63	99.84	1
SERPINA1	100.00	1
SLC10A1	99.99	1
SLC10A2	99.99	1
SLC16A1	99.26	1
SLC25A13	99.67	1
SLC25A20	100.00	1
SLC2A2	99.96	1
SLC30A10	99.99	1
SLC51A	100.00	1
SLCO1B1	98.69	1
SLCO1B3	99.85	1
SMPD1	100.00	1
PMP22	99.99	1
STN1	99.88	1
STT3B	99.96	1
TALDO1	100.00	1
TANGO2	99.85	1
TFR2	99.97	1
TJP2	99.99	1
TMEM216	99.98	1
TMEM67	99.69	1
TRMU	100.00	1
SKIC3	99.82	1
TWNK	100.00	1
UGT1A1	99.98	1
UNC45A	100.00	1
UROS	100.00	1
USP53	99.92	1
UTP4	99.91	1
VIPAS39	99.87	1
VPS33B	99.95	1
VPS50	98.35	1
WDR83OS	100.00	1
YARS1	99.29	1
ZFYVE19	99.99	1

Hereditary Spastic Paraplegia (94 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ABCD1	95.00	interpretable range CS1>95%
ADAR	95.00	interpretable range CS1>95%
AFG3L2	95.00	interpretable range CS1>95%
AIMP1	95.00	interpretable range CS1>95%
ALDH18A1	95.00	interpretable range CS1>95%
ALDH3A2	95.00	interpretable range CS1>95%
ALS2	95.00	interpretable range CS1>95%
AMPD2	95.00	interpretable range CS1>95%
AP4B1	95.00	interpretable range CS1>95%
AP4E1	95.00	interpretable range CS1>95%
AP4M1	95.00	interpretable range CS1>95%
AP4S1	95.00	interpretable range CS1>95%
AP5Z1	95.00	interpretable range CS1>95%
ARL6IP1	95.00	interpretable range CS1>95%
ARSI	95.00	interpretable range CS1>95%
ATL1	95.00	interpretable range CS1>95%
ATP13A2	95.00	interpretable range CS1>95%
B4GALNT1	95.00	interpretable range CS1>95%
BICD2	95.00	interpretable range CS1>95%
BSCL2	95.00	interpretable range CS1>95%
MTRFR	95.00	interpretable range CS1>95%
C19ORF12	95.00	interpretable range CS1>95%
CAPN1	95.00	interpretable range CS1>95%
CCT5	95.00	interpretable range CS1>95%
CPT1C	95.00	interpretable range CS1>95%
CYP27A1	95.00	interpretable range CS1>95%
CYP2U1	95.00	interpretable range CS1>95%
CYP7B1	95.00	interpretable range CS1>95%
DARS1	95.00	interpretable range CS1>95%
DDHD1	95.00	interpretable range CS1>95%
DDHD2	95.00	interpretable range CS1>95%
DSTYK	95.00	interpretable range CS1>95%
ENTPD1	95.00	interpretable range CS1>95%
ERLIN1	95.00	interpretable range CS1>95%
ERLIN2	95.00	interpretable range CS1>95%
FA2H	95.00	interpretable range CS1>95%
FARS2	95.00	interpretable range CS1>95%
FLRT1	95.00	interpretable range CS1>95%
GBA2	95.00	interpretable range CS1>95%
GCH1	95.00	interpretable range CS1>95%
GJC2	95.00	interpretable range CS1>95%
HACE1	95.00	interpretable range CS1>95%
HSPD1	95.00	interpretable range CS1>95%
IBA57	95.00	interpretable range CS1>95%
KCNA2	95.00	interpretable range CS1>95%
KDM5C	95.00	interpretable range CS1>95%
KIDINS220	95.00	interpretable range CS1>95%
KIF1A	95.00	interpretable range CS1>95%
KIF1C	95.00	interpretable range CS1>95%
KIF5A	95.00	interpretable range CS1>95%
KLC2	95.00	interpretable range CS1>95%
L1CAM	95.00	interpretable range CS1>95%
ERCC2	95.00	interpretable range CS1>95%
MARS1	95.00	interpretable range CS1>95%
MARS2	95.00	interpretable range CS1>95%
MTPAP	95.00	interpretable range CS1>95%
NIPA1	95.00	interpretable range CS1>95%
NKX6-2	95.00	interpretable range CS1>95%
NT5C2	95.00	interpretable range CS1>95%
OPA3	95.00	interpretable range CS1>95%
PCYT2	95.00	interpretable range CS1>95%
PGAP1	95.00	interpretable range CS1>95%
PLP1	95.00	interpretable range CS1>95%
PNPLA6	95.00	interpretable range CS1>95%
POLR3A	95.00	interpretable range CS1>95%
RAB3GAP2	95.00	interpretable range CS1>95%
REEP1	95.00	interpretable range CS1>95%
REEP2	95.00	interpretable range CS1>95%
RNASEH2B	95.00	interpretable range CS1>95%
RTN2	95.00	interpretable range CS1>95%
SACS	95.00	interpretable range CS1>95%
SERAC1	95.00	interpretable range CS1>95%
SLC16A2	95.00	interpretable range CS1>95%
SLC1A4	95.00	interpretable range CS1>95%
SLC2A1	95.00	interpretable range CS1>95%
SLC33A1	95.00	interpretable range CS1>95%
SPART	95.00	interpretable range CS1>95%
SPAST	95.00	interpretable range CS1>95%
SPG11	95.00	interpretable range CS1>95%
SPG21	95.00	interpretable range CS1>95%
SPG7	95.00	interpretable range CS1>95%
TECPR2	95.00	interpretable range CS1>95%
TFG	95.00	interpretable range CS1>95%
TUBB4A	95.00	interpretable range CS1>95%
UBAP1	95.00	interpretable range CS1>95%
UCHL1	95.00	interpretable range CS1>95%
USP8	95.00	interpretable range CS1>95%
VAMP1	95.00	interpretable range CS1>95%
VPS37A	95.00	interpretable range CS1>95%
WASHC5	95.00	interpretable range CS1>95%
WDR48	95.00	interpretable range CS1>95%
ZFR	95.00	interpretable range CS1>95%
ZFYVE26	95.00	interpretable range CS1>95%
ZFYVE27	95.00	interpretable range CS1>95%
BRAF	95.00	interpretable range CS1>95%
CBL	95.00	interpretable range CS1>95%
HRAS	95.00	interpretable range CS1>95%
KRAS	95.00	interpretable range CS1>95%
MAP2K1	95.00	interpretable range CS1>95%
MAP2K2	95.00	interpretable range CS1>95%
NRAS	95.00	interpretable range CS1>95%
PTPN11	95.00	interpretable range CS1>95%
RAF1	95.00	interpretable range CS1>95%
SHOC2	95.00	interpretable range CS1>95%
SOS1	95.00	interpretable range CS1>95%
RIT1	95.00	interpretable range CS1>95%

Hereditary spastic paraplegia (188 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCD1	97.56	1
ABHD12	88.30	1
ADAR	100.00	1
AFG3L2	94.80	1
AIMP1	99.97	1
ALDH18A1	100.00	1
ALDH3A2	99.94	1
ALS2	100.00	1
AMPD2	99.90	1
ANG	100.00	1
AP4B1	100.00	1
AP4E1	99.99	1
AP4M1	100.00	1
AP4S1	100.00	1
AP5Z1	99.25	1
ARG1	100.00	1
ARL6IP1	100.00	1
ARSI	99.82	1
ASPA	100.00	1
ATAD3A	97.50	1
ATL1	99.89	1
ATP13A2	98.30	1
AUH	99.24	1
B4GALNT1	99.99	1
BICD2	100.00	1
BSCL2	100.00	1
BTD	100.00	1
MTRFR	100.00	1
C19ORF12	100.00	1
CAPN1	99.97	1
CCT5	99.92	1
CDK16	99.96	1
CLN8	100.00	1
COASY	100.00	1
CPT1C	100.00	1
CSF1R	99.99	1
CTNNB1	100.00	1
CYP27A1	99.38	1
CYP2U1	93.20	1
CYP7B1	100.00	1
DARS1	100.00	1
DARS2	100.00	1
DDHD1	99.58	1
DDHD2	100.00	1
DSTYK	100.00	1
ELOVL4	100.00	1
ENTPD1	100.00	1
ERCC2	98.91	1
ERLIN1	100.00	1
ERLIN2	100.00	1
EXOSC3	100.00	1
FA2H	95.71	1
HYCC1	100.00	1
RETREG1	100.00	1
FARS2	100.00	1
FBXO7	99.78	1
FIG4	100.00	1
FLRT1	100.00	1
FRMD7	99.98	1
FUS	100.00	1
FXN	100.00	1
GAD1	100.00	1
GALC	98.98	1
GAN	98.52	1
GARS1	97.89	1
GART	99.99	1
GBA1	100.00	1
GBA2	100.00	1
GBE1	100.00	1
GCH1	99.71	1
GFAP	100.00	1
GJA1	100.00	1
GJC2	96.72	1
GLB1	100.00	1
GLRX5	100.00	1
GLTP	100.00	1
GPR143	89.09	1
GSN	97.80	1
HACE1	98.41	1
HEPACAM	99.85	1
HEXA	100.00	1
HSD17B4	100.00	1
HSPD1	100.00	1
IBA57	92.01	1
IFIH1	100.00	1
IRF2BPL	97.56	1
KCNJ6	100.00	1
KCNMA1	99.93	1
KDM5C	99.97	1
WASHC5	100.00	1
NEXMIF	100.00	1
KIDINS220	100.00	1
KIF1A	98.74	1
KIF1C	100.00	1
KIF5A	100.00	1
KLC2	100.00	1
KLC4	99.99	1
L1CAM	99.98	1
L2HGDH	99.75	1
LAMB1	100.00	1
LYST	100.00	1
MARS1	100.00	1
MARS2	100.00	1
MFN2	100.00	1
MLC1	98.57	1
MTPAP	99.98	1
NANS	100.00	1
NEFL	100.00	1
NIPA1	92.99	1
NKX6-2	100.00	1
NT5C2	100.00	1
OCLN	100.00	1
MED12	99.98	1
OPA3	100.00	1
OPTN	100.00	1
PANK2	100.00	1
PDYN	100.00	1
PGAP1	100.00	1
PLA2G6	100.00	1
PLP1	100.00	1
PNPLA6	99.95	1
POLR3A	100.00	1
POLR3B	100.00	1
PPP2R2B	100.00	1
PRUNE1	100.00	1
PSEN1	100.00	1
PUM1	100.00	1
RAB18	99.99	1
RAB3GAP1	100.00	1
RAB3GAP2	100.00	1
RARS1	99.99	1
REEP1	100.00	1
REEP2	97.04	1
RNASEH2A	100.00	1
RNASEH2B	94.58	1
RNASEH2C	100.00	1
RNASET2	100.00	1
RTN2	99.44	1
SACS	99.95	1
SAMD9L	100.00	1
SAMHD1	100.00	1
SERAC1	100.00	1
SETX	100.00	1
SIL1	99.95	1
SLC16A2	99.97	1
SLC25A15	100.00	1
SLC25A46	100.00	1
SLC2A1	100.00	1
SLC33A1	100.00	1
SLC39A14	99.94	1
SMPD1	100.00	1
SOD1	100.00	1
SOX10	100.00	1
SPAST	99.83	1
SPG11	100.00	1
SPART	100.00	1
SPG21	100.00	1
SPG7	95.78	1
SPR	99.98	1
SUN1	100.00	1
SYNE1	100.00	1
TANGO2	99.94	1
TARDBP	99.43	1
TBC1D20	95.06	1
TECPR2	99.92	1
TFG	99.98	1
TGM6	100.00	1
TH	98.79	1
TRPV4	100.00	1
TTBK2	100.00	1
TUBB4A	100.00	1
TUBG1	100.00	1
UBQLN2	99.30	1
UCHL1	99.66	1
USP8	100.00	1
VAMP1	100.00	1
VAPB	99.77	1
VCP	97.10	1
VPS13B	100.00	1
VPS37A	99.28	1
WDR45	100.00	1
WDR45B	99.94	1
WDR48	100.00	1
ZC4H2	100.00	1
ZFR	100.00	1
ZFYVE26	100.00	1
ZFYVE27	100.00	1

Neuromuscular disorders (548 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AARS1	100.00	No comment
ABCD1	97.56	No comment
ABHD12	88.30	No comment
ABHD5	99.85	No comment
ACAD9	100.00	No comment
ACADL	98.57	No comment
ACADM	99.87	No comment
ACADS	97.51	No comment
ACADVL	98.04	No comment
ACTA1	99.79	No comment
ACVR1	100.00	No comment
ADAR	100.00	No comment
ADSS1	99.98	No comment
AFG3L2	94.80	No comment
AGK	100.00	No comment
AGL	100.00	No comment
AGRN	96.53	No comment
AIFM1	99.98	No comment
AIMP1	99.97	No comment
ALDH18A1	100.00	No comment
ALDH3A2	99.94	No comment
ALDOA	100.00	No comment
ALG13	99.53	No comment
ALG14	100.00	No comment
ALG2	99.83	No comment
ALS2	100.00	No comment
AMPD1	100.00	No comment
AMPD2	99.90	No comment
ANG	100.00	No comment
ANO5	100.00	No comment
ANXA11	99.99	No comment
AP4B1	100.00	No comment
AP4E1	99.99	No comment
AP4M1	100.00	No comment
AP4S1	100.00	No comment
AP5Z1	99.25	No comment
APTX	99.96	No comment
AR	100.00	No comment
ARG1	100.00	No comment
ARHGEF10	99.98	No comment
ARHGEF28	99.05	No comment
ARL6IP1	100.00	No comment
ARSI	99.82	No comment
ASAH1	100.00	No comment
ASCC1	91.30	No comment
ATL1	99.89	No comment
ATL3	99.93	No comment
ATM	100.00	No comment
ATP13A2	98.30	No comment
ATP1A1	100.00	No comment
ATP2A1	100.00	No comment
ATP7A	100.00	No comment
ATXN2	93.25	No comment
AUH	99.24	No comment
B3GALNT2	92.96	No comment
B4GAT1	99.99	No comment
B4GALNT1	99.99	No comment
BAG3	100.00	No comment
BCS1L	100.00	No comment
BICD2	100.00	No comment
BIN1	99.94	No comment
BSCL2	100.00	No comment
BVES	100.00	No comment
TWNK	100.00	No comment
MTRFR	100.00	No comment
C19ORF12	100.00	No comment
C1QBP	99.47	No comment
C9ORF72	99.96	No comment
CACNA1A	99.53	No comment
CACNA1S	100.00	No comment
CAPN1	99.97	No comment
CAPN3	99.99	No comment
CASQ1	100.00	No comment
CAV3	100.00	No comment
CCDC78	100.00	No comment
CCT5	99.92	No comment
CFL2	100.00	No comment
CHAT	99.97	No comment
CHCHD10	99.66	No comment
CHKB	99.75	No comment
CHMP2B	100.00	No comment
CHRNA1	99.99	No comment
CHRNB1	99.95	No comment
CHRND	100.00	No comment
CHRNE	100.00	No comment
CHRNG	99.87	No comment
CHST14	99.50	No comment
CLCN1	100.00	No comment
CLN3	100.00	No comment
CLN8	100.00	No comment
CLTCL1	99.04	No comment
CNBP	100.00	No comment
CNTN1	100.00	No comment
CNTNAP1	100.00	No comment
COL12A1	100.00	No comment
COL13A1	99.52	No comment
COL6A1	99.90	No comment
COL6A2	99.98	No comment
COL6A3	100.00	No comment
COLQ	100.00	No comment
COQ9	100.00	No comment
COX10	100.00	No comment
COX15	99.99	No comment
COX20	100.00	No comment
COX6A1	100.00	No comment
COX6B1	100.00	No comment
COX8A	100.00	No comment
CPT1C	100.00	No comment
CPT2	98.55	No comment
CRYAB	100.00	No comment
CSF1R	99.99	No comment
CTDP1	100.00	No comment
CYP27A1	99.38	No comment
CYP2U1	93.20	No comment
CYP7B1	95.41	No comment
DAG1	100.00	No comment
DARS2	100.00	No comment
DCAF8	100.00	No comment
DCTN1	100.00	No comment
DDHD1	99.58	No comment
DDHD2	100.00	No comment
DES	100.00	No comment
DGAT2	100.00	No comment
DGUOK	100.00	No comment
DHTKD1	99.54	No comment
DMD	99.96	No comment
DMPK	99.91	No comment
DMXL2	100.00	No comment
DNAJB2	100.00	No comment
DNAJB6	91.94	No comment
DNM2	99.84	No comment
DNMT1	99.54	No comment
DOK7	97.44	No comment
DOLK	100.00	No comment
DPAGT1	100.00	No comment
DPM1	100.00	No comment
DPM2	100.00	No comment
DPM3	100.00	No comment
DST	100.00	No comment
DYNC1H1	99.92	No comment
DYSF	99.72	No comment
ECEL1	99.80	No comment
EGR2	100.00	No comment
ELOVL4	100.00	No comment
EMD	98.97	No comment
ENO3	100.00	No comment
ENTPD1	100.00	No comment
ERBB3	100.00	No comment
ERBB4	100.00	No comment
ERCC2	98.91	No comment
ERLIN1	100.00	No comment
ERLIN2	100.00	No comment
ETFA	100.00	No comment
ETFB	100.00	No comment
ETFDH	100.00	No comment
EXOSC3	100.00	No comment
EXOSC8	100.00	No comment
FA2H	95.71	No comment
FAM111B	100.00	No comment
HYCC1	100.00	No comment
RETREG1	93.72	No comment
FARS2	100.00	No comment
FASTKD2	100.00	No comment
FBLN5	100.00	No comment
FBN2	100.00	No comment
FBXL4	100.00	No comment
FBXO38	100.00	No comment
FBXO7	99.78	No comment
FDX2	100.00	No comment
FGD4	99.98	No comment
CFH	100.00	No comment
FIG4	100.00	No comment
FKRP	100.00	No comment
FKTN	100.00	No comment
FLAD1	100.00	No comment
FLNC	100.00	No comment
FLRT1	100.00	No comment
FLVCR1	100.00	No comment
FOXRED1	100.00	No comment
FUS	100.00	No comment
FXN	94.27	No comment
GAA	100.00	No comment
GABRA3	99.59	No comment
GAD1	100.00	No comment
GALC	98.98	No comment
GAN	98.52	No comment
GARS1	97.89	No comment
GART	99.99	No comment
GBA1	100.00	No comment
GBA2	100.00	No comment
GBE1	100.00	No comment
GCH1	99.71	No comment
GDAP1	100.00	No comment
GFAP	100.00	No comment
GFER	99.09	No comment
GFPT1	99.94	No comment
GGPS1	100.00	No comment
GJB1	100.00	No comment
GJB3	100.00	No comment
GJC2	96.72	No comment
GLA	100.00	No comment
GLB1	100.00	No comment
GLE1	100.00	No comment
GLI3	100.00	No comment
GLTP	100.00	No comment
GMPPB	100.00	No comment
GNB4	100.00	No comment
GNE	100.00	No comment
GOLGA2	95.41	No comment
GOSR2	100.00	No comment
GSN	97.80	No comment
GYG1	94.40	No comment
GYS1	100.00	No comment
HADHA	100.00	No comment
HADHB	100.00	No comment
HARS1	99.73	No comment
HEPACAM	99.85	No comment
HEXA	100.00	No comment
HEXB	99.19	No comment
HINT1	100.00	No comment
HK1	100.00	No comment
HNRNPA1	97.19	No comment
HNRNPA2B1	100.00	No comment
HNRNPDL	99.98	No comment
HOXD10	100.00	No comment
HRAS	100.00	No comment
HSD17B4	100.00	No comment
HSPB1	100.00	No comment
HSPB3	100.00	No comment
HSPB8	100.00	No comment
HSPD1	95.18	No comment
HSPG2	99.19	No comment
IBA57	92.01	No comment
IFIH1	100.00	No comment
IFRD1	98.86	No comment
IGHMBP2	99.38	No comment
ELP1	100.00	No comment
INF2	99.92	No comment
INPP5K	99.31	No comment
ISCU	98.41	No comment
CRPPA	95.50	No comment
ITGA7	100.00	No comment
KARS1	100.00	No comment
KBTBD13	99.16	No comment
KCNA1	100.00	No comment
KCNE1	100.00	No comment
KCNE2	100.00	No comment
KCNE3	100.00	No comment
KCNH2	98.15	No comment
KCNJ12	100.00	No comment
KCNJ2	100.00	No comment
KCNQ1	100.00	No comment
WASHC5	100.00	No comment
KIF1A	98.74	No comment
KIF1B	99.84	No comment
KIF1C	100.00	No comment
KIF21A	98.54	No comment
KIF5A	100.00	No comment
KLC4	99.99	No comment
KLHL40	100.00	No comment
KLHL41	100.00	No comment
KLHL9	100.00	No comment
KY	100.00	No comment
L1CAM	99.98	No comment
LAMA2	100.00	No comment
LAMA5	98.39	No comment
LAMB2	100.00	No comment
LAMP2	99.60	No comment
LARGE1	100.00	No comment
LDB3	100.00	No comment
LDHA	99.42	No comment
LGI4	100.00	No comment
LIMS2	91.30	No comment
LITAF	100.00	No comment
LMNA	99.28	No comment
LMOD3	100.00	No comment
LPIN1	99.97	No comment
CORIN	99.01	No comment
LRPPRC	98.80	No comment
LRSAM1	99.33	No comment
MARS1	100.00	No comment
MATR3	100.00	No comment
MB	100.00	No comment
MED25	100.00	No comment
MEGF10	99.99	No comment
MFN2	100.00	No comment
MLC1	98.57	No comment
MAP3K20	100.00	No comment
MARS2	100.00	No comment
MME	100.00	No comment
MORC2	100.00	No comment
MPV17	100.00	No comment
MPZ	99.80	No comment
MSTN	100.00	No comment
MTM1	99.91	No comment
MTMR14	99.92	No comment
MTMR2	99.55	No comment
MTPAP	99.98	No comment
MUSK	100.00	No comment
MYBPC1	100.00	No comment
MYBPC3	100.00	No comment
MYH7B	99.85	No comment
MYH2	100.00	No comment
MYH3	100.00	No comment
MYH4	100.00	No comment
MYH7	100.00	No comment
MYH8	100.00	No comment
MYL1	100.00	No comment
MYO18B	99.80	No comment
MYO9A	99.74	No comment
MYOT	100.00	No comment
MYPN	99.97	No comment
NAGLU	96.69	No comment
NDRG1	100.00	No comment
NDUFA1	100.00	No comment
NDUFA10	96.45	No comment
NDUFA11	100.00	No comment
NDUFA12	100.00	No comment
NDUFA2	100.00	No comment
NDUFA3	100.00	No comment
NDUFA9	100.00	No comment
NDUFAF1	100.00	No comment
NDUFAF2	100.00	No comment
NDUFAF5	99.96	No comment
NDUFAF6	95.61	No comment
NDUFS1	100.00	No comment
NDUFS2	100.00	No comment
NDUFS3	100.00	No comment
NDUFS4	99.96	No comment
NDUFS7	93.34	No comment
NDUFS8	100.00	No comment
NDUFV1	99.62	No comment
NDUFV2	100.00	No comment
NEB	100.00	No comment
NEFH	81.41	No comment
NEFL	100.00	No comment
NEK1	99.98	No comment
NGF	100.00	No comment
NIPA1	92.99	No comment
NT5C2	100.00	No comment
NTRK1	98.36	No comment
NUBPL	99.92	No comment
MED12	99.98	No comment
OPA3	100.00	No comment
OPTN	100.00	No comment
ORAI1	92.14	No comment
P4HA1	100.00	No comment
PABPN1	100.00	No comment
PANK2	100.00	No comment
PDHA1	92.64	No comment
PDK3	97.80	No comment
PDYN	100.00	No comment
PET100	100.00	No comment
PEX1	100.00	No comment
PEX7	95.60	No comment
PFKM	100.00	No comment
PFN1	100.00	No comment
PGAM2	99.97	No comment
PGAP1	100.00	No comment
PGK1	99.88	No comment
PGM1	100.00	No comment
PHKA1	99.99	No comment
PHKB	99.97	No comment
PHOX2A	96.24	No comment
PHYH	99.81	No comment
PIEZO2	100.00	No comment
PIP5K1C	94.98	No comment
PLA2G6	100.00	No comment
PLEC	99.26	No comment
PLEKHG5	100.00	No comment
PLP1	100.00	No comment
PMP2	100.00	No comment
PMP22	100.00	No comment
PNKP	99.84	No comment
PNPLA2	98.21	No comment
PNPLA6	99.95	No comment
PNPLA8	100.00	No comment
POGLUT1	100.00	No comment
POLG	100.00	No comment
POLG2	100.00	No comment
POLR3A	100.00	No comment
POLR3B	100.00	No comment
POMGNT1	100.00	No comment
POMGNT2	100.00	No comment
POMK	100.00	No comment
POMT1	100.00	No comment
POMT2	99.53	No comment
PPP2R2B	100.00	No comment
PRDM12	81.28	No comment
PREPL	99.98	No comment
PRKAG2	95.75	No comment
PRNP	99.92	No comment
PRPH	99.62	No comment
PRPS1	99.91	No comment
PRUNE1	100.00	No comment
PRX	99.89	No comment
PSEN1	100.00	No comment
HACD1	94.60	No comment
CAVIN1	100.00	No comment
PTRH2	99.91	No comment
PUS1	100.00	No comment
PYGM	100.00	No comment
PYROXD1	99.99	No comment
RAB3GAP2	100.00	No comment
RAB7A	100.00	No comment
RAPSN	100.00	No comment
RBCK1	99.76	No comment
RBM7	100.00	No comment
REEP1	100.00	No comment
REEP2	97.04	No comment
RNASEH2B	94.58	No comment
RNASET2	100.00	No comment
RRM2B	100.00	No comment
RTN2	99.44	No comment
RYR1	99.39	No comment
RYR3	100.00	No comment
SACS	99.95	No comment
SBF1	98.38	No comment
SBF2	99.92	No comment
SCN10A	100.00	No comment
SCN11A	99.98	No comment
SCN4A	100.00	No comment
SCN5A	100.00	No comment
SCN9A	99.99	No comment
SCO1	100.00	No comment
SCO2	93.85	No comment
SELENON	84.10	No comment
SEPTIN9	99.38	No comment
SETX	100.00	No comment
SGCA	100.00	No comment
SGCB	91.50	No comment
SGCD	100.00	No comment
SGCE	93.30	No comment
SGCG	100.00	No comment
SGPL1	100.00	No comment
SH3TC2	100.00	No comment
SIGMAR1	92.51	No comment
SIL1	99.95	No comment
SLC12A6	100.00	No comment
SLC16A1	100.00	No comment
SLC16A2	99.97	No comment
SLC18A3	100.00	No comment
SLC22A5	100.00	No comment
SLC25A15	100.00	No comment
SLC25A20	100.00	No comment
SLC25A4	99.81	No comment
SLC25A42	99.60	No comment
SLC25A46	100.00	No comment
SLC2A1	100.00	No comment
SLC33A1	100.00	No comment
SLC52A2	100.00	No comment
SLC52A3	99.86	No comment
SLC5A7	100.00	No comment
SMCHD1	100.00	No comment
SMN1	100.00	No comment
SNAP25	100.00	No comment
SOD1	100.00	No comment
SOX10	95.36	No comment
SPAST	99.83	No comment
SPEG	98.78	No comment
SPG11	100.00	No comment
SPART	100.00	No comment
SPG21	100.00	No comment
SPG7	95.78	No comment
SPR	99.98	No comment
SPTBN4	98.07	No comment
SPTLC1	99.27	No comment
SPTLC2	96.43	No comment
SQSTM1	94.05	No comment
SRPK3	98.13	No comment
STAC3	100.00	No comment
STIM1	100.00	No comment
SUCLA2	99.86	No comment
SUCLG1	93.27	No comment
SUN1	100.00	No comment
SURF1	100.00	No comment
SYNE1	100.00	No comment
SYNE2	100.00	No comment
SYT2	99.96	No comment
TACO1	99.66	No comment
TANGO2	99.94	No comment
TARDBP	100.00	No comment
TARS2	100.00	No comment
WWTR1	97.30	No comment
TBCE	100.00	No comment
TBK1	99.99	No comment
TCAP	100.00	No comment
TDP1	100.00	No comment
TECPR2	99.92	No comment
TFG	99.98	No comment
TGM6	100.00	No comment
TH	98.79	No comment
TIA1	100.00	No comment
TK2	100.00	No comment
TMEM43	100.00	No comment
RXYLT1	100.00	No comment
TMEM65	90.50	No comment
MYMK	100.00	No comment
TNNI2	100.00	No comment
TNNT1	94.05	No comment
TNNT3	100.00	No comment
TNPO3	100.00	No comment
TOR1A	99.70	No comment
TOR1AIP1	100.00	No comment
TPI1	99.90	No comment
TPM2	100.00	No comment
TPM3	98.74	No comment
TRAPPC11	99.97	No comment
TRIM2	100.00	No comment
TRIM32	100.00	No comment
TRIM54	96.63	No comment
TRIM63	100.00	No comment
TRIP4	100.00	No comment
TRMT5	100.00	No comment
TRPV4	100.00	No comment
TSFM	86.80	No comment
TTBK2	100.00	No comment
TTN	100.00	No comment
TTR	100.00	No comment
TUBA4A	100.00	No comment
TUBB3	99.01	No comment
TUBB4A	100.00	No comment
TYMP	100.00	No comment
UBA1	100.00	No comment
UBQLN2	99.30	No comment
UNC13A	99.74	No comment
USP8	100.00	No comment
VAMP1	100.00	No comment
VAPB	99.77	No comment
VARS2	100.00	No comment
VCP	97.10	No comment
VMA21	77.99	No comment
VPS33B	100.00	No comment
VPS37A	99.28	No comment
VRK1	100.00	No comment
WARS1	100.00	No comment
WDR45	100.00	No comment
WDR48	100.00	No comment
WNK1	100.00	No comment
XK	99.44	No comment
YARS1	100.00	No comment
YARS2	100.00	No comment
ZC4H2	100.00	No comment
ZFHX2	100.00	No comment
ZFR	100.00	No comment
ZFYVE26	100.00	No comment
ZFYVE27	100.00	No comment

Neuropathy (148 genes) - IPG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AARS1	100.00	1	NM_001605.3
ABHD12	100.00	1	NM_001042472.3
AIFM1	100.00	1	NM_004208.4
APTX	100.00	1	NM_001195248.2
ARHGEF10	100.00	1	NM_014629.4
ATL1	100.00	1	NM_015915.5
ATP1A1	100.00	1	NM_000701.8
ATP7A	100.00	1	NM_000052.7
BICD2	100.00	1	NM_001003800.2
BSCL2	100.00	1	NM_001122955.3
MTRFR	100.00	1	NM_152269.5
COX6A1	100.00	1	NM_004373.4
CTDP1	100.00	1	NM_004715.5
DCTN1	100.00	1	NM_004082.4
DHTKD1	100.00	1	NM_018706.7
DNAJB2	100.00	1	NM_006736.6
DNM2	100.00	1	NM_001005361.3
DNMT1	99.93	1	NM_001130823.3
DST	100.00	1	NM_001144770.2
DYNC1H1	100.00	1	NM_001376.5
EGR2	100.00	1	NM_000399.5
ELP1	100.00	1	NM_003640.5
FBLN5	100.00	1	NM_006329.3
FBXO38	100.00	1	NM_205836.3
FGD4	100.00	1	NM_001304480.1
FIG4	100.00	1	NM_014845.6
GAN	100.00	1	NM_022041.3
GARS1	100.00	1	NM_002047.4
GDAP1	100.00	1	NM_018972.4
GJB1	100.00	1	NM_000166.6
GJB3	100.00	1	NM_024009.3
GNB4	100.00	1	NM_021629.4
HARS1	100.00	1	NM_002109.6
HINT1	100.00	1	NM_005340.7
HK1	100.00	1	NM_001358263.1
HOXD10	100.00	1	NM_002148.4
HSPB1	100.00	1	NM_001540.5
HSPB3	100.00	1	NM_006308.3
HSPB8	100.00	1	NM_014365.3
IFRD1	100.00	1	NM_001007245.2
IGHMBP2	100.00	1	NM_002180.3
INF2	99.00	1	NM_022489.4
KARS1	100.00	1	NM_001130089.1
KIF1A	100.00	1	NM_001244008.1
KIF1B	100.00	1	NM_015074.3
KIF5A	100.00	1	NM_004984.4
LITAF	100.00	1	NM_001136472.1
LMNA	100.00	1	NM_170707.4
LRSAM1	100.00	1	NM_001005373.3
MARS1	100.00	1	NM_004990.4
MED25	100.00	1	NM_030973.3
MFN2	100.00	1	NM_014874.4
MME	100.00	1	NM_007289.4
MORC2	100.00	1	NM_001303256.3
MPZ	100.00	1	NM_000530.8
MTMR2	100.00	1	NM_016156.6
MYH14	100.00	1	NM_001145809.2
NAGLU	100.00	1	NM_000263.4
NDRG1	100.00	1	NM_006096.4
NEFH	100.00	1	NM_021076.4
NEFL	100.00	1	NM_006158.5
NGF	100.00	1	NM_002506.3
NTRK1	100.00	1	NM_002529.3
PDK3	100.00	1	NM_001142386.3
PEX1	100.00	1	NM_000466.3
PEX7	100.00	1	NM_000288.4
PHYH	100.00	1	NM_006214.4
PLEKHG5	100.00	1	NM_001265592.1
PMP22	100.00	1	NM_000304.4
POLG	100.00	1	NM_001126131.2
PRDM12	98.36	1	NM_021619.3
PRPS1	100.00	1	NM_002764.4
PRX	100.00	1	NM_181882.3
RAB7A	100.00	1	NM_004637.6
REEP1	100.00	1	NM_001371279.1
RETREG1	100.00	1	NM_001034850.2
SBF1	100.00	1	NM_002972.4
SBF2	100.00	1	NM_030962.3
SCN11A	100.00	1	NM_001349253.2
SCN9A	100.00	1	NM_001365536.1
SCO2	100.00	1	NM_005138.3
SETX	100.00	1	NM_015046.7
SH3TC2	100.00	1	NM_024577.4
SLC12A6	100.00	1	NM_001365088.1
SLC5A7	100.00	1	NM_021815.5
SOX10	100.00	1	NM_006941.4
SPG11	100.00	1	NM_025137.4
SPTLC1	100.00	1	NM_006415.4
SPTLC2	100.00	1	NM_004863.3
TDP1	100.00	1	NM_018319.4
TECPR2	100.00	1	NM_014844.5
TFG	100.00	1	NM_006070.6
TRIM2	100.00	1	NM_015271.5
TRPV4	100.00	1	NM_021625.5
TTR	100.00	1	NM_000371.4
TUBB3	100.00	1	NM_006086.4
TYMP	100.00	1	NM_001257989.1
VCP	100.00	1	NM_007126.5
WNK1	100.00	1	NM_018979.4
YARS1	100.00	1	NM_003680.3
AAAS	100.00	1	NM_015665.6
ALS2	100.00	1	NM_020919.4
ANG	100.00	1	NM_001145.4
ANXA11	100.00	1	NM_145868.2
ATL3	100.00	1	NM_015459.5
CNTNAP1	100.00	1	NM_003632.3
COA8	100.00	1	NM_001370595.1
COL4A1	100.00	1	NM_001845.6
DCAF8	100.00	1	NM_015726.4
DCX	100.00	1	NM_001195553.2
ERBB4	100.00	1	NM_005235.3
FUS	100.00	1	NM_004960.4
GBF1	100.00	1	NM_004193.3
GCH1	100.00	1	NM_000161.3
GLA	100.00	1	NM_000169.3
HTRA1	100.00	1	NM_002775.5
KLC2	100.00	1	NM_001134775.1
MATR3	100.00	1	NM_018834.6
MCM3AP	100.00	1	NM_003906.5
MPV17	100.00	1	NM_002437.5
NEK1	100.00	1	NM_001199397.3
NFASC	100.00	1	NM_001005388.2
OPTN	100.00	1	NM_001008212.2
PDXK	100.00	1	NM_003681.5
PFN1	100.00	1	NM_005022.4
PMP2	100.00	1	NM_002677.5
PNKP	100.00	1	NM_007254.4
PRPH	100.00	1	NM_006262.4
PTRH2	100.00	1	NM_016077.5
SCN10A	100.00	1	NM_006514.3
SEPTIN9	100.00	1	NM_001113491.2
SGPL1	100.00	1	NM_003901.4
SIGMAR1	100.00	1	NM_005866.4
SLC25A46	100.00	1	NM_138773.4
SMN1	6.96	1	NM_000344.3
SOD1	100.00	1	NM_000454.5
SORD	94.98	1	NM_003104.6
SQSTM1	100.00	1	NM_003900.5
SURF1	100.00	1	NM_003172.4
SYT2	100.00	1	NM_177402.5
TARDBP	100.00	1	NM_007375.4
TIA1	100.00	1	NM_022173.4
TRPA1	100.00	1	NM_007332.3
TUBA1A	100.00	1	NM_006009.4
TUBA4A	100.00	1	NM_006000.3
UBQLN2	100.00	1	NM_013444.3
VAPB	100.00	1	NM_004738.5
WARS1	100.00	1	NM_004184.4

Neuropathy panel - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AARS1	99.99	1
ABCA1	99.92	1
ABHD12	99.98	1
AGTPBP1	99.68	1
AGXT	100.00	1
AHNAK2	97.58	1
AIFM1	99.92	1
AMACR	100.00	1
AP1S1	99.49	1
APOA1	100.00	1
APTX	99.92	1
AR	99.76	1
ARHGEF10	100.00	1
ARSA	99.99	1
ASAH1	99.90	1
ASCC1	90.99	1
ATAD3A	99.62	1
ATL1	99.95	1
ATL3	99.75	1
ATM	99.83	1
ATP1A1	98.41	1
ATP7A	99.87	1
B4GALNT1	99.97	1
BAG3	100.00	1
BCKDHB	99.73	1
BICD2	99.99	1
BSCL2	99.99	1
CFAP276	98.35	1
CCT5	99.99	1
CD59	100.00	1
CHCHD10	100.00	1
CNTNAP1	99.98	1
COA7	99.91	1
COX6A1	99.98	1
CPOX	99.99	1
CTDP1	99.97	1
CYP27A1	100.00	1
DARS2	98.31	1
DCAF8	99.83	1
DCTN1	99.98	1
DEGS1	99.99	1
DGAT2	99.99	1
DGUOK	99.93	1
DHTKD1	99.95	1
DNAJB2	99.97	1
DNAJC3	99.92	1
DNM2	99.99	1
DNMT1	99.13	1
DRP2	99.94	1
DST	99.52	1
DYNC1H1	99.99	1
EGR2	100.00	1
ELP1	99.96	1
ERCC6	99.60	1
ERCC8	99.79	1
ETFDH	99.82	1
EXOSC3	100.00	1
EXOSC8	99.91	1
EXOSC9	94.91	1
FANCA	99.98	1
HYCC1	99.81	1
FBLN5	100.00	1
FBXO38	99.96	1
FGD4	99.87	1
FIG4	99.83	1
FLVCR1	99.91	1
FXN	99.96	1
GALC	99.92	1
GAN	99.98	1
GARS1	99.93	1
GBA2	99.99	1
GBF1	99.97	1
GDAP1	99.98	1
GJB1	100.00	1
GJC2	100.00	1
GLA	99.90	1
GNB4	99.96	1
GNE	99.99	1
GSN	99.93	1
HADHA	99.98	1
HADHB	99.82	1
HARS1	99.96	1
HINT1	99.86	1
HK1	99.97	1
HMBS	99.97	1
HSPB1	99.97	1
HSPB3	99.97	1
HSPB8	100.00	1
IARS2	99.77	1
IGHMBP2	99.92	1
INF2	99.99	1
ITPR3	99.98	1
JAG1	100.00	1
KARS1	99.98	1
KCNA2	99.99	1
KIF1A	99.96	1
KIF1B	99.97	1
KIF26B	100.00	1
KIF5A	99.91	1
LITAF	83.22	1
LMNA	99.96	1
LRSAM1	99.99	1
LYST	99.87	1
MARS1	99.97	1
MCM3AP	99.98	1
MFN2	99.98	1
MICAL1	99.99	1
MMACHC	99.98	1
MME	97.17	1
MORC2	100.00	1
MPV17	99.98	1
MPZ	99.99	1
MTMR2	99.94	1
MTRFR	99.87	1
MTTP	99.92	1
MYH7B	99.98	1
NAGA	100.00	1
NAGLU	100.00	1
NDRG1	99.99	1
NEFH	100.00	1
NEFL	100.00	1
NGF	100.00	1
NMNAT2	99.79	1
NTRK1	99.86	1
MED12	99.95	1
OPA3	100.00	1
PDHA1	99.04	1
PDK3	99.49	1
PDYN	100.00	1
PEX10	100.00	1
PEX7	99.72	1
PHYH	100.00	1
PLEKHG5	99.99	1
PLP1	99.98	1
PMM2	99.93	1
PMP2	99.93	1
PMP22	100.00	1
PNKP	100.00	1
PNPLA6	99.99	1
POLG	100.00	1
POLG2	99.51	1
POLR3A	99.97	1
HCRT	99.85	1
PRDM12	100.00	1
PRKCG	99.99	1
PRPS1	99.95	1
PRUNE1	99.85	1
PRX	99.99	1
PTEN	99.89	1
PTPN11	99.98	1
PTRH2	99.99	1
RAB7A	100.00	1
RBM7	99.99	1
REEP1	99.97	1
RETREG1	99.99	1
SACS	99.97	1
SBF1	99.99	1
SBF2	99.77	1
SCARB2	99.99	1
SCN10A	99.99	1
SCN11A	99.94	1
SCN9A	99.83	1
SCO2	100.00	1
SCYL1	100.00	1
SEPTIN9	99.99	1
SETX	99.97	1
SGPL1	99.95	1
SH3TC2	100.00	1
SIGMAR1	99.99	1
SLC12A6	99.98	1
SLC25A19	99.99	1
SLC25A21	99.98	1
SLC25A46	99.88	1
SLC52A2	100.00	1
SLC52A3	99.94	1
SLC5A7	99.57	1
SMN1	7.60	1
SMN2	6.68	1
SORD	85.52	1
SOX10	100.00	1
SPAST	99.77	1
SPG11	99.89	1
SPG7	99.99	1
SPTAN1	99.96	1
SPTBN4	99.91	1
SPTLC1	99.74	1
SPTLC2	99.95	1
SUCLA2	99.96	1
SURF1	100.00	1
TFG	98.68	1
TRIM2	99.98	1
TRIP4	99.97	1
TRPA1	99.67	1
TRPV4	100.00	1
TTPA	99.88	1
TTR	100.00	1
TUBB3	100.00	1
TWNK	100.00	1
TYMP	99.87	1
UBA1	99.93	1
VAPB	100.00	1
VCP	99.99	1
VPS13A	99.68	1
VRK1	99.98	1
WARS1	99.97	1
WNK1	99.98	1
XK	99.98	1
XPA	99.68	1
XRCC1	99.96	1
YARS1	99.29	1
ZFYVE26	100.00	1

Respiratory Disorders panel (137 genes) - Ugent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCA3	99.96	1
ABCC8	99.98	1
ACVRL1	99.88	1
AP3B1	99.89	1
AQP1	99.99	1
ARHGEF1	99.97	1
ASAH1	99.90	1
ASCL1	99.82	1
ATP13A3	99.84	1
ATP6AP1	100.00	1
BDNF	100.00	1
BLOC1S3	100.00	1
BLOC1S6	99.98	1
BMP10	99.96	1
BMPR1B	99.61	1
BMPR2	99.95	1
CARD11	99.97	1
CAV1	99.97	1
CCDC39	99.74	1
CCDC40	100.00	1
CD19	99.98	1
CD81	99.97	1
CIITA	99.99	1
CLEC1A	99.97	1
CLEC7A	99.98	1
COPA	99.61	1
CR2	99.97	1
CSF2RA	93.86	1
CSF2RB	100.00	1
CTLA4	99.99	1
CTNNBL1	100.00	1
DKC1	99.59	1
DNAAF1	99.99	1
DNAAF2	99.91	1
DNAH11	99.93	1
DNAH5	99.98	1
DNAI1	99.92	1
DNAI2	99.86	1
DNAH9	99.79	1
DOCK8	99.86	1
DTNBP1	99.89	1
EFEMP2	99.94	1
EIF2AK4	99.97	1
ELMOD2	99.80	1
ELN	99.86	1
ENG	100.00	1
ERBIN	99.69	1
FAM111B	99.98	1
FARSA	100.00	1
FARSB	99.64	1
FBLN5	100.00	1
FLNA	99.99	1
FNIP1	99.87	1
FOXF1	99.99	1
FOXP3	99.93	1
GARS1	99.93	1
GATA2	99.99	1
GBA1	96.92	1
GDF2	100.00	1
HPS1	100.00	1
HPS3	99.91	1
HPS4	99.98	1
HPS5	99.91	1
HPS6	100.00	1
IKZF1	99.92	1
IL6R	92.46	1
IL6ST	99.88	1
IRF2BP2	100.00	1
ITCH	95.57	1
ITGA3	99.86	1
KCNA5	100.00	1
KCNK3	100.00	1
KDR	99.86	1
LRBA	99.76	1
LTBP4	99.99	1
MARS1	99.97	1
MOGS	100.00	1
MS4A1	99.60	1
MUC5B	99.94	1
NFKB1	99.80	1
NFKB2	99.98	1
NKX2-1	100.00	1
NME8	99.83	1
NOD2	99.98	1
NOTCH3	99.99	1
NSMCE3	100.00	1
OAS1	99.96	1
PARN	99.75	1
PGM3	99.94	1
PIK3CD	99.99	1
PIK3CG	99.72	1
PIK3R1	99.86	1
POU2AF1	99.43	1
PTEN	99.89	1
RAC2	99.99	1
RFX5	99.88	1
RFXANK	100.00	1
RFXAP	99.98	1
RGPD4	71.96	1
RSPH4A	99.95	1
RSPH9	99.99	1
RTEL1	100.00	1
SCNN1A	100.00	1
SCNN1B	99.38	1
SCNN1G	99.94	1
SEC61A1	99.99	1
SERPINA1	100.00	1
SFTPA1	99.99	1
SFTPA2	99.81	1
SFTPB	99.99	1
SFTPC	99.99	1
SFTPD	99.62	1
SH3KBP1	99.95	1
SLC34A2	99.99	1
SLC7A7	99.99	1
SMAD4	99.97	1
SMAD9	99.99	1
SMPD1	100.00	1
SOX17	100.00	1
SPINK5	99.91	1
STAT3	99.97	1
STAT5B	99.50	1
STING1	99.87	1
TBX4	99.96	1
TERC	98.59	1
TERT	100.00	1
TGFBR1	99.94	1
TGFBR2	99.98	1
TINF2	100.00	1
TNFRSF13B	99.43	1
TNFRSF13C	99.99	1
TNFSF12	100.00	1
TNFSF13	100.00	1
TRNT1	99.97	1
TSC1	99.99	1
TSC2	99.98	1
ZNF341	100.00	1

Spastic Paraplegia (89 genes) - IPG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ALS2	100.00	1	NM_020919.4
AMPD2	100.00	1	NM_001368809.2
AP4B1	100.00	1	NM_001253852.3
AP4E1	100.00	1	NM_007347.5
AP4M1	100.00	1	NM_004722.4
AP4S1	100.00	1	NM_001128126.3
AP5Z1	100.00	1	NM_014855.3
ARL6IP1	100.00	1	NM_015161.3
ARSI	100.00	1	NM_001012301.4
ATL1	100.00	1	NM_015915.5
B4GALNT1	100.00	1	NM_001478.5
BICD2	100.00	1	NM_001003800.2
BSCL2	100.00	1	NM_001122955.3
MTRFR	100.00	1	NM_152269.5
C19ORF12	100.00	1	NM_031448.6
CCT5	100.00	1	NM_012073.5
CYP2U1	100.00	1	NM_183075.3
CYP7B1	100.00	1	NM_004820.5
DDHD1	100.00	1	NM_001160148.2
DDHD2	100.00	1	NM_015214.3
ENTPD1	100.00	1	NM_001776.6
ERLIN1	100.00	1	NM_006459.4
ERLIN2	100.00	1	NM_007175.8
FA2H	100.00	1	NM_024306.5
FLRT1	100.00	1	NM_013280.4
GAD1	100.00	1	NM_000817.3
GBA2	100.00	1	NM_020944.3
GJA1	100.00	1	NM_000165.5
GJC2	100.00	1	NM_020435.4
HSPD1	100.00	1	NM_002156.5
KIF1A	100.00	1	NM_001244008.1
KIF1C	100.00	1	NM_006612.6
KIF5A	100.00	1	NM_004984.4
L1CAM	100.00	1	NM_001278116.2
MAG	100.00	1	NM_002361.4
MARS1	100.00	1	NM_004990.4
NIPA1	100.00	1	NM_144599.5
NT5C2	100.00	1	NM_001351169.2
PGAP1	100.00	1	NM_024989.4
PLP1	100.00	1	NM_000533.5
PNPLA6	100.00	1	NM_001166111.2
RAB3GAP2	100.00	1	NM_012414.4
REEP1	100.00	1	NM_001371279.1
REEP2	100.00	1	NM_001271803.2
RTN2	100.00	1	NM_005619.5
SACS	100.00	1	NM_014363.6
SETX	100.00	1	NM_015046.7
SLC16A2	100.00	1	NM_006517.5
SLC33A1	100.00	1	NM_004733.4
SPART	100.00	1	NM_015087.5
SPAST	100.00	1	NM_014946.3
SPG11	100.00	1	NM_025137.4
SPG21	100.00	1	NM_016630.7
SPG7	100.00	1	NM_003119.4
TECPR2	100.00	1	NM_014844.5
TFG	100.00	1	NM_006070.6
USP8	100.00	1	NM_005154.5
VCP	100.00	1	NM_007126.5
VPS37A	100.00	1	NM_152415.3
WASHC5	100.00	1	NM_014846.4
WDR48	100.00	1	NM_020839.4
ZFR	100.00	1	NM_016107.5
ZFYVE26	100.00	1	NM_015346.4
ADAR	100.00	1	NM_001111.5
AFG3L2	100.00	1	NM_006796.3
ALDH18A1	100.00	1	NM_002860.4
ALDH3A2	100.00	1	NM_000382.3
ATXN1	100.00	1	NM_000332.3
CAPN1	100.00	1	NM_005186.4
COA8	100.00	1	NM_001370595.1
CPT1C	100.00	1	NM_001199753.1
CYP27A1	100.00	1	NM_000784.4
DSTYK	100.00	1	NM_015375.3
FARS2	100.00	1	NM_006567.5
GFAP	100.00	1	NM_002055.5
GLRX5	100.00	1	NM_016417.3
HACE1	100.00	1	NM_020771.4
IBA57	100.00	1	NM_001010867.4
ITPR1	100.00	1	NM_001168272.1
KIDINS220	100.00	1	NM_020738.4
KLC2	100.00	1	NM_001134775.1
KLC4	100.00	1	NM_201521.3
PCYT2	100.00	1	NM_002861.5
RAB18	100.00	1	NM_021252.5
RAB3GAP1	100.00	1	NM_012233.3
TBC1D20	100.00	1	NM_144628.4
UBAP1	100.00	1	NM_016525.5
UCHL1	100.00	1	NM_004181.5
ZFYVE27	100.00	1	NM_001002261.3

chILD (34 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ABCA3	95.00	NM_001089.3 / interpretable range CS1>95%
AP3B1	95.00	NM_003664.5/ interpretable range CS1>95%
AP3D1	95.00	NM_001261826.3/ interpretable range CS1>95%
BLOC1S3	95.00	NM_212550.5/ interpretable range CS1>95%
BLOC1S5	95.00	NM_201280.3/ interpretable range CS1>95%
BLOC1S6	95.00	NM_012388.4/ interpretable range CS1>95%
COPA	95.00	NM_004371.4/ interpretable range CS1>95%
CSF2RA	95.00	NM_006140.6/ interpretable range CS1>95%
CSF2RB	95.00	NM_000395.3/ interpretable range CS1>95%
DTNBP1	95.00	NM_032122.5/ interpretable range CS1>95%
FLNA	95.00	NM_001456.4/ interpretable range CS1>95%
FOXF1	95.00	NM_001451.3/ interpretable range CS1>95%
GATA2	95.00	NM_032638.5/ interpretable range CS1>95%
HPS1	95.00	NM_000195.5/ interpretable range CS1>95%
HPS3	95.00	NM_022081.6/ interpretable range CS1>95%
HPS5	95.00	NM_181507.2/ interpretable range CS1>95%
HPS6	95.00	NM_024747.6/ interpretable range CS1>95%
MARS1	95.00	NM_004990.4/ interpretable range CS1>95%
NKX2-1	95.00	NM_001079668.3/ interpretable range CS1>95%
SFTPA1	95.00	NM_005411.5/ interpretable range CS1>95%
SFTPA2	95.00	NM_001098668.4/ interpretable range CS1>95%
SFTPB	95.00	NM_198843.3/ interpretable range CS1>95%
SFTPC	95.00	NM_003018.4/ interpretable range CS1>95%
STING1	95.00	NM_198282.4/ interpretable range CS1>95%
TBX4	95.00	NM_018488.3/ interpretable range CS1>95%
TERC	95.00	NR_001566.1/ interpretable range CS1>95%
TERT	95.00	NM_198253.3/ interpretable range CS1>95%
HPS4	95.00	NM_022081.6/ interpretable range CS1>95%
MUC5B	95.00	NM_002458.3/ interpretable range CS1>95%
PARN	95.00	NM_002582.4/ interpretable range CS1>95%
RTEL1	95.00	NM_032957.5/ interpretable range CS1>95%
SLC34A2	95.00	NM_006424.3/ interpretable range CS1>95%
SLC7A7	95.00	NM_001126106.4/ interpretable range CS1>95%
RAB5B	95.00	NM_002868.4/ interpretable range CS1>95%