KLC4 | Belgian Genetic Tests database

Analyte Export to PDF
Name:	kinesin light chain 4
Symbol:	KLC4
XREF(s):	HGNC ORPHANET
Created:	15 Mar 2022 - 14:20
Changed:	15 Mar 2022 - 14:20

Related Genetic Tests

Related Gene Panels

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

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

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

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