PLD3 | Belgian Genetic Tests database

Analyte Export to PDF
Name:	phospholipase D family member 3
Symbol:	PLD3
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	HU-K4
XREF(s):	Orphanet HGNC OMIM Genatlas SwissProt Reactome Ensembl
Created:	20 Aug 2021 - 01:08
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

Related Diseases

Related Gene Panels

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

Neuropathy (genepanel) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
AARS1	99.94	1
ABCA1	99.92	1
ABHD12	99.11	1
ADPRS	100.00	1
AGTPBP1	99.40	1
AIFM1	99.43	1
ARHGEF10	100.00	1
ARSA	100.00	1
ATL1	99.95	1
ATL3	99.86	1
ATM	99.83	1
ATP1A1	99.94	1
ATP7A	99.35	1
B4GALNT1	99.95	1
BAG3	100.00	1
BICD2	100.00	1
BSCL2	100.00	1
CADM3	99.94	1
CD59	99.97	1
CFAP276	99.73	1
CHCHD10	97.06	1
CLTCL1	99.98	1
CNTNAP1	99.80	1
COA7	100.00	1
COX20	99.40	1
COX6A1	99.99	1
CTDP1	98.02	1
CTNNB1	99.98	1
CYP27A1	99.96	1
DARS2	99.86	1
DCAF8	99.98	1
DCTN1	99.95	1
DGAT2	99.99	1
DGUOK	99.76	1
DHTKD1	99.88	1
DNAJB2	100.00	1
DNAJC3	99.58	1
DNM2	99.96	1
DNMT1	99.88	1
DRP2	99.45	1
DST	99.92	1
DYNC1H1	99.97	1
EGR2	100.00	1
ELP1	99.96	1
ETFDH	99.76	1
FBLN5	92.79	1
FBXO38	99.93	1
FGD4	99.89	1
FIG4	99.94	1
FLVCR1	99.93	1
FXN	97.92	1
GALC	99.88	1
GAN	99.84	1
GARS1	99.86	1
GBA2	99.97	1
GBE1	99.84	1
GBF1	99.95	1
GDAP1	99.93	1
GJB1	99.99	1
GJB3	100.00	1
GJC2	96.12	1
GLA	99.64	1
GNB4	99.95	1
GSN	97.83	1
HADHA	99.96	1
HADHB	99.97	1
HARS1	99.99	1
HINT1	99.96	1
HK1	96.86	1
HNRNPA1	100.00	1
HOXD10	100.00	1
HSPB1	99.83	1
HSPB3	100.00	1
HSPB8	99.90	1
IARS2	99.96	1
IFRD1	99.96	1
IGHMBP2	99.99	1
INF2	97.15	1
ITPR3	99.88	1
JAG1	99.92	1
KIF1A	99.96	1
KIF5A	99.93	1
LITAF	100.00	1
LMNA	99.98	1
LRSAM1	99.97	1
LYST	99.92	1
MCM3AP	99.96	1
MFN2	99.96	1
MMACHC	99.99	1
MME	97.69	1
MORC2	99.98	1
MPV17	100.00	1
MPZ	99.97	1
MTMR2	99.98	1
MTRFR	99.85	1
MYH14	99.79	1
NAGA	99.99	1
NAGLU	98.00	1
NARS1	99.74	1
NDRG1	100.00	1
NEFH	98.77	1
NEFL	99.99	1
NGF	99.99	1
NTRK1	99.67	1
PCYT2	97.60	1
PDK3	98.86	1
PEX7	99.87	1
PHYH	99.65	1
PIEZO2	99.88	1
PLD3	99.99	1
PLEKHG5	99.66	1
PLP1	99.93	1
PMM2	99.94	1
PMP2	99.95	1
PMP22	100.00	1
PNKP	100.00	1
PNPLA6	99.88	1
POLG	99.98	1
POLR3B	99.88	1
PPOX	99.94	1
PRDM12	99.60	1
PRKCG	99.90	1
PRNP	100.00	1
PRPS1	99.79	1
PRX	99.94	1
PTEN	99.15	1
PTPN11	99.91	1
PTRH2	99.97	1
RAB7A	99.94	1
REEP1	99.99	1
RETREG1	99.92	1
RFC1	99.44	1
SACS	99.98	1
SBF1	99.97	1
SBF2	99.92	1
SCARB2	99.94	1
SCN10A	99.97	1
SCN11A	99.77	1
SCN9A	99.96	1
SCO2	100.00	1
SCYL1	99.64	1
SEPTIN9	99.94	1
SETX	99.96	1
SH3TC2	99.98	1
SIGMAR1	99.99	1
SLC12A6	99.88	1
SLC25A19	99.99	1
SLC25A46	99.93	1
SLC52A2	100.00	1
SLC52A3	100.00	1
SLC5A7	99.97	1
SORD	92.86	1
SOX10	100.00	1
SPAST	99.83	1
SPG11	99.94	1
SPG7	99.99	1
SPTAN1	99.97	1
SPTBN4	99.19	1
SPTLC1	99.98	1
SPTLC2	99.94	1
SPTLC3	99.94	1
SURF1	97.64	1
SYT2	99.89	1
TBCE	99.69	1
TBCK	99.76	1
TECPR2	99.90	1
TFG	99.34	1
TRIM2	99.99	1
TRPV4	99.96	1
TTPA	99.97	1
TTR	100.00	1
TUBB3	100.00	1
TWNK	100.00	1
UCHL1	99.99	1
VAPB	99.94	1
VCP	99.92	1
VPS13A	99.60	1
VRK1	99.94	1
VWA1	91.35	1
WARS1	99.79	1
WNK1	99.94	1
XRCC1	99.94	1
YARS1	99.96	1
ZFHX2	99.98	1
ZFYVE26	99.96	1