KIF1B | Belgian Genetic Tests database

Analyte Export to PDF
Name:	kinesin family member 1B
Symbol:	KIF1B
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	HMSNII KIAA0591 KLP
XREF(s):	Orphanet Reactome Ensembl Genatlas HGNC OMIM SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

Related Diseases

Related Gene Panels

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

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

Onco-endocine pathologies (50 genes) - UCL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AIP	100.00	1	Part of Custom Onco-endocrino panel
ALK	100.00	1	Part of Custom Onco-endocrino panel
ARMC5	100.00	1	Part of Custom Onco-endocrino panel
AXIN2	100.00	1	Part of Custom Onco-endocrino panel
BAP1	100.00	1	Part of Custom Onco-endocrino panel
CDK4	100.00	1	Part of Custom Onco-endocrino panel
CDKN1B	100.00	1	Part of Custom Onco-endocrino panel
CDKN2A	100.00	1	Part of Custom Onco-endocrino panel
CYLD	100.00	1	Part of Custom Onco-endocrino panel
DNMT3A	100.00	1	Part of Custom Onco-endocrino panel
EGLN1	100.00	1	Part of Custom Onco-endocrino panel
EGLN2	100.00	1	Part of Custom Onco-endocrino panel
EGLN3	100.00	1	Part of Custom Onco-endocrino panel
EPAS1	100.00	1	Part of Custom Onco-endocrino panel
FH	100.00	1	Part of Custom Onco-endocrino panel
FLCN	100.00	1	Part of Custom Onco-endocrino panel
GOT2	100.00	1	Part of Custom Onco-endocrino panel
HIF1A	100.00	1	Part of Custom Onco-endocrino panel
HOXB13	100.00	1	Part of Custom Onco-endocrino panel
IDH3B	100.00	1	Part of Custom Onco-endocrino panel
KIF1B	100.00	1	Part of Custom Onco-endocrino panel
KIT	100.00	1	Part of Custom Onco-endocrino panel
KMT2D	100.00	1	Part of Custom Onco-endocrino panel
MAX	100.00	1	Part of Custom Onco-endocrino panel
MC1R	100.00	1	Part of Custom Onco-endocrino panel
MDH1	100.00	1	Part of Custom Onco-endocrino panel
MDH2	100.00	1	Part of Custom Onco-endocrino panel
MEN1	100.00	1	Part of Custom Onco-endocrino panel
MERTK	100.00	1	Part of Custom Onco-endocrino panel
MET	100.00	1	Part of Custom Onco-endocrino panel
MITF	100.00	1	Part of Custom Onco-endocrino panel
NF1	100.00	1	Part of Custom Onco-endocrino panel
PDGFRA	100.00	1	Part of Custom Onco-endocrino panel
PHOX2B	100.00	1	Part of Custom Onco-endocrino panel
POT1	100.00	1	Part of Custom Onco-endocrino panel
PRKAR1A	100.00	1	Part of Custom Onco-endocrino panel
PTCH1	100.00	1	Part of Custom Onco-endocrino panel
PTCH2	100.00	1	Part of Custom Onco-endocrino panel
RB1	100.00	1	Part of Custom Onco-endocrino panel
RET	100.00	1	Part of Custom Onco-endocrino panel
SDHA	100.00	1	Part of Custom Onco-endocrino panel
SDHAF1	100.00	1	Part of Custom Onco-endocrino panel
SDHAF2	100.00	1	Part of Custom Onco-endocrino panel
SDHAF3	100.00	1	Part of Custom Onco-endocrino panel
SDHB	100.00	1	Part of Custom Onco-endocrino panel
SDHC	100.00	1	Part of Custom Onco-endocrino panel
SDHD	100.00	1	Part of Custom Onco-endocrino panel
SUFU	100.00	1	Part of Custom Onco-endocrino panel
TMEM127	100.00	1	Part of Custom Onco-endocrino panel
VHL	100.00	1	Part of Custom Onco-endocrino panel

Paraganglioma and pheochromocytoma (29 genes) - UCL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
DNMT3A	100.00	1	Part of custom Onco-endocrino panel
EGLN1	100.00	1	Part of custom Onco-endocrino panel
EGLN2	100.00	1	Part of custom Onco-endocrino panel
EGLN3	100.00	1	Part of custom Onco-endocrino panel
EPAS1	100.00	1	Part of custom Onco-endocrino panel
FH	100.00	1	Part of custom Onco-endocrino panel
GOT2	100.00	1	Part of custom Onco-endocrino panel
HIF1A	100.00	1	Part of custom Onco-endocrino panel
IDH3B	100.00	1	Part of custom Onco-endocrino panel
KIF1B	100.00	1	Part of custom Onco-endocrino panel
KMT2D	100.00	1	Part of custom Onco-endocrino panel
MAX	100.00	1	Part of custom Onco-endocrino panel
MDH1	100.00	1	Part of custom Onco-endocrino panel
MDH2	100.00	1	Part of custom Onco-endocrino panel
MEN1	100.00	1	Part of custom Onco-endocrino panel
MERTK	100.00	1	Part of custom Onco-endocrino panel
MET	100.00	1	Part of custom Onco-endocrino panel
NF1	100.00	1	Part of custom Onco-endocrino panel
PRKAR1A	100.00	1	Part of custom Onco-endocrino panel
RET	100.00	1	Part of custom Onco-endocrino panel
SDHA	100.00	1	Part of custom Onco-endocrino panel
SDHAF1	100.00	1	Part of custom Onco-endocrino panel
SDHAF2	100.00	1	Part of custom Onco-endocrino panel
SDHAF3	100.00	1	Part of custom Onco-endocrino panel
SDHB	100.00	1	Part of custom Onco-endocrino panel
SDHC	100.00	1	Part of custom Onco-endocrino panel
SDHD	100.00	1	Part of custom Onco-endocrino panel
TMEM127	100.00	1	Part of custom Onco-endocrino panel
VHL	100.00	1	Part of custom Onco-endocrino panel