CEP250 | Belgian Genetic Tests database

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Name:	centrosomal protein 250
Symbol:	CEP250
XREF(s):	OMIM HGNC ORPHANET
Created:	03 Jan 2023 - 12:33
Changed:	03 Jan 2023 - 12:34

Related Genetic Tests

Related Gene Panels

Hearing loss (deafness) (genepanel) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABHD12	99.11	1
ACTG1	100.00	1
ADCY1	98.44	1
ADGRV1	99.88	1
AIFM1	99.43	1
ATOH1	100.00	1
ATP11A	99.99	1
ATP2B2	99.96	1
ATP6V0A4	99.83	1
ATP6V1B1	99.92	1
ATP6V1B2	99.91	1
BDP1	99.89	1
BSND	100.00	1
CABP2	99.99	1
CACNA1D	99.94	1
CCDC50	99.92	1
CD164	99.92	1
CDC14A	99.95	1
CDH23	99.95	1
CEACAM16	99.92	1
CEP250	99.98	1
CEP78	99.83	1
CHD7	99.96	1
CIB2	99.99	1
CISD2	99.95	1
CLDN14	100.00	1
CLIC5	99.98	1
CLPP	100.00	1
CLRN1	99.97	1
COCH	99.90	1
COL11A1	99.89	1
COL11A2	99.35	1
COL2A1	100.00	1
COL4A3	99.94	1
COL4A4	99.96	1
COL4A5	99.18	1
COL4A6	99.37	1
COL9A1	99.98	1
COL9A2	99.95	1
COL9A3	99.86	1
CRYL1	99.89	1
CRYM	99.91	1
DCDC2	99.93	1
DIABLO	99.98	1
DIAPH1	97.50	1
DIAPH3	99.86	1
DMXL2	99.40	1
DNAAF10	99.97	1
EDN3	100.00	1
EDNRB	99.94	1
ELMOD3	100.00	1
EPHA10	97.51	1
EPS8	99.87	1
EPS8L2	99.87	1
ERAL1	99.97	1
ESPN	96.05	1
ESRP1	99.81	1
ESRRB	100.00	1
EYA1	99.93	1
EYA4	99.98	1
FDXR	99.98	1
FGF3	98.11	1
FOXI1	100.00	1
GATA3	99.89	1
GIPC3	97.45	1
GJB2	100.00	1
GJB3	100.00	1
GJB6	100.00	1
GPSM2	99.94	1
GRHL2	99.95	1
GRXCR1	100.00	1
GRXCR2	99.91	1
GSDME	99.97	1
HARS1	99.99	1
HARS2	99.51	1
HECTD3	99.39	1
HGF	99.96	1
HOMER2	99.74	1
HOXA2	99.93	1
HSD17B4	99.80	1
IFNLR1	99.52	1
ILDR1	99.95	1
KARS1	99.91	1
KCNE1	100.00	1
KCNJ10	100.00	1
KCNQ1	99.87	1
KCNQ4	99.49	1
KITLG	99.87	1
LARS2	99.99	1
LHFPL5	99.99	1
LMX1A	100.00	1
LOXHD1	99.73	1
LRTOMT	99.99	1
MARVELD2	99.96	1
MCM2	99.96	1
MET	99.97	1
MIR96	100.00	1
MITF	99.97	1
MPZL2	99.96	1
MSRB3	99.96	1
MTAP	98.96	1
MYH14	99.79	1
MYH9	100.00	1
MYO15A	99.59	1
MYO3A	99.84	1
MYO6	99.77	1
MYO7A	99.99	1
NARS2	99.94	1
NDP	99.95	1
NLRP3	99.90	1
OSBPL2	100.00	1
OTOA	99.83	1
OTOF	99.95	1
OTOG	99.99	1
OTOGL	99.63	1
P2RX2	99.91	1
PAX3	99.98	1
PCDH15	99.94	1
PDE1C	99.92	1
PDZD7	99.82	1
PI4KB	99.55	1
PJVK	99.79	1
PLS1	99.80	1
PNPT1	99.86	1
POLR1B	99.95	1
POLR1C	97.52	1
POLR1D	99.72	1
POU3F4	99.94	1
POU4F3	100.00	1
PPIP5K2	99.83	1
PRPS1	99.79	1
PTPRQ	99.83	1
RDX	99.80	1
REST	99.96	1
RIPOR2	99.96	1
ROR1	98.58	1
S1PR2	100.00	1
SALL1	99.99	1
SEMA3E	99.97	1
SERPINB6	98.21	1
SIX1	100.00	1
SIX5	99.87	1
SLC12A2	98.96	1
SLC17A8	99.95	1
SLC22A4	99.96	1
SLC26A4	99.95	1
SLC26A5	99.95	1
SLC4A11	99.99	1
SLC7A8	99.99	1
SLITRK6	100.00	1
SMPX	99.37	1
SNAI2	99.98	1
SOX10	100.00	1
SPATC1L	100.00	1
SSBP1	99.99	1
STRC	99.73	1
SYNE4	100.00	1
TBC1D24	99.97	1
TCOF1	99.96	1
TECTA	99.97	1
THRAP3	99.89	1
TIMM8A	99.78	1
TJP2	99.94	1
TMC1	99.83	1
TMEM132E	99.75	1
TMIE	99.95	1
TMPRSS3	99.95	1
TMTC2	99.96	1
TNC	99.97	1
TPRN	90.56	1
TRIOBP	99.09	1
TSPEAR	99.97	1
TWNK	100.00	1
USH1C	98.72	1
USH1G	99.96	1
USH2A	99.95	1
USP48	99.80	1
WBP2	99.86	1
WFS1	100.00	1
WHRN	99.69	1

Retinal dystrophy - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCA4	99.30	1
ABCC6	98.57	1
ABHD12	99.98	1
ACBD5	99.97	1
ACO2	99.99	1
ADAM9	99.89	1
ADAMTS18	99.99	1
ADGRA3	99.90	1
ADGRV1	99.80	1
ADIPOR1	99.83	1
AFG3L2	99.97	1
AGBL5	99.98	1
AHI1	99.86	1
AHR	99.79	1
AIPL1	100.00	1
ALMS1	99.90	1
ARHGEF18	99.97	1
ARL2BP	99.89	1
ARL3	99.98	1
ARL6	99.90	1
ARMS2	100.00	1
ARSG	100.00	1
ASRGL1	99.84	1
ATF6	98.19	1
ATXN7	99.98	1
BBIP1	99.99	1
BBS1	100.00	1
BBS10	99.98	1
BBS12	100.00	1
BBS2	99.90	1
BBS4	99.88	1
BBS5	99.00	1
BBS7	99.42	1
BBS9	99.75	1
BEST1	99.86	1
MFRP	100.00	1
C2	99.99	1
C3	100.00	1
CA4	100.00	1
CABP4	100.00	1
CACNA1F	99.94	1
CACNA2D4	99.99	1
CAPN5	99.88	1
CC2D2A	99.95	1
CCT2	98.46	1
CDH23	99.95	1
CDH3	99.98	1
CDHR1	99.72	1
CEP164	99.99	1
CEP19	99.99	1
CEP250	99.93	1
CEP290	98.10	1
CEP78	99.95	1
CERKL	99.91	1
CFAP410	100.00	1
CFAP418	100.00	1
CFB	99.97	1
CFH	99.12	1
CHM	96.46	1
CIB2	100.00	1
CLCC1	93.17	1
CLN3	99.92	1
CLRN1	99.99	1
CLUAP1	99.95	1
CNGA1	99.60	1
CNGA3	99.95	1
CNGB1	97.53	1
CNGB3	99.96	1
CNNM4	99.93	1
COL11A1	90.72	1
COL2A1	99.87	1
COL9A1	99.91	1
CRB1	99.73	1
CRX	99.96	1
CSPP1	98.31	1
CTNNA1	99.98	1
CWC27	99.67	1
CYP4V2	99.98	1
DHDDS	98.65	1
DHX38	99.97	1
DMD	99.76	1
DRAM2	96.06	1
DTHD1	99.92	1
DYNC2H1	99.66	1
EFEMP1	99.68	1
ELOVL1	100.00	1
ELOVL4	99.91	1
EMC1	99.85	1
ERCC6	99.60	1
ESPN	100.00	1
EXOSC2	100.00	1
EYS	99.86	1
FAM161A	99.77	1
FBLN5	100.00	1
FBN2	99.90	1
FLVCR1	99.91	1
FSCN2	100.00	1
FZD4	100.00	1
GDF6	100.00	1
GNAT1	100.00	1
GNAT2	99.87	1
GNB3	100.00	1
GNPTG	100.00	1
GPR179	99.99	1
GRID2	99.97	1
GRK1	99.99	1
GRM6	100.00	1
GUCA1A	100.00	1
GUCA1B	99.99	1
GUCY2D	100.00	1
HARS1	99.96	1
HGSNAT	99.93	1
HK1	99.97	1
HMCN1	99.44	1
HMX1	100.00	1
HTRA1	100.00	1
IDH3A	99.98	1
IDH3B	100.00	1
IFT140	100.00	1
IFT172	99.98	1
IFT27	100.00	1
IFT43	99.97	1
IFT81	94.64	1
IFT88	98.26	1
IMPDH1	92.77	1
IMPG1	99.93	1
IMPG2	99.97	1
INPP5E	99.85	1
INVS	99.94	1
IQCB1	99.72	1
ITM2B	99.85	1
JAG1	100.00	1
KCNJ13	99.99	1
KCNV2	99.97	1
KIAA1549	99.98	1
KIF11	99.84	1
KIF3B	99.99	1
KIZ	99.98	1
KLHL7	99.95	1
LAMA1	99.98	1
LAMB2	99.99	1
LCA5	99.89	1
LRAT	100.00	1
LRIT3	100.00	1
LRP5	99.95	1
LZTFL1	100.00	1
MAK	99.47	1
MAPKAPK3	99.97	1
MERTK	98.90	1
MFN2	99.98	1
MFSD8	99.70	1
MIR204	100.00	1
MKKS	100.00	1
MKS1	99.92	1
MTRFR	99.87	1
MTTP	99.92	1
MVK	99.97	1
MYO7A	99.96	1
NBAS	99.86	1
NDP	99.98	1
NEK2	95.09	1
NEUROD1	100.00	1
NMNAT1	99.93	1
NPHP1	99.05	1
NPHP3	99.89	1
NPHP4	99.98	1
NR2E3	100.00	1
NR2F1	99.99	1
NRL	100.00	1
NYX	100.00	1
OAT	90.17	1
OFD1	99.68	1
MED12	99.95	1
OPA3	100.00	1
OPN1LW	71.75	1
OPN1MW	30.23	1
OPN1SW	99.97	1
OTX2	100.00	1
PANK2	99.99	1
PAX2	99.99	1
PCARE	100.00	1
PCDH15	99.71	1
PCYT1A	100.00	1
PDE6A	99.98	1
PDE6B	100.00	1
PDE6C	99.91	1
PDE6G	100.00	1
PDE6H	99.97	1
PDZD7	98.09	1
PEX1	98.80	1
PEX2	100.00	1
PEX6	99.99	1
PEX7	99.72	1
PGK1	99.93	1
PHYH	100.00	1
PITPNM3	99.98	1
PLA2G5	99.91	1
PLK4	99.89	1
PNPLA6	99.99	1
POC1B	100.00	1
POC5	99.85	1
POMGNT1	99.69	1
PRCD	100.00	1
PRDM13	99.99	1
PROM1	99.97	1
PRPF3	99.73	1
PRPF31	99.99	1
PRPF4	99.96	1
PRPF6	99.98	1
PRPF8	99.98	1
PRPH2	99.98	1
PRPS1	99.95	1
RAB28	99.97	1
RAX2	100.00	1
RB1	99.84	1
RBP3	99.99	1
RBP4	99.99	1
RCBTB1	99.99	1
RD3	100.00	1
RDH11	99.99	1
RDH12	99.98	1
RDH5	100.00	1
REEP6	100.00	1
RGR	99.79	1
RGS9BP	100.00	1
RHO	100.00	1
RIMS1	99.85	1
RIMS2	99.97	1
RLBP1	99.99	1
ROM1	100.00	1
MAPRE2	99.98	1
RP1L1	100.00	1
RP2	99.58	1
RP9	99.83	1
RPE65	98.99	1
RPGR	94.45	1
RPGRIP1	99.95	1
RPGRIP1L	96.35	1
RS1	99.92	1
RTN4IP1	99.98	1
SAG	99.98	1
SAMD11	100.00	1
SAMD7	99.99	1
SCAPER	99.75	1
SCLT1	95.17	1
SDCCAG8	100.00	1
SEMA4A	99.81	1
SF3B2	99.98	1
SLC24A1	99.92	1
SLC25A46	99.88	1
SLC6A6	99.98	1
SLC7A14	99.99	1
SNRNP200	99.60	1
SPATA7	99.80	1
GPKOW	100.00	1
TEAD1	99.97	1
TIMM8A	100.00	1
TIMP3	100.00	1
TLR3	99.99	1
TLR4	99.99	1
TMEM126A	99.88	1
TMEM216	99.98	1
TMEM237	99.30	1
TOPORS	99.99	1
TREX1	100.00	1
TRIM32	100.00	1
TRNT1	99.97	1
TRPM1	99.96	1
TSPAN12	99.89	1
TTC8	99.67	1
TTLL5	99.95	1
TTPA	99.88	1
TUB	100.00	1
TUBGCP4	99.80	1
TUBGCP6	100.00	1
TULP1	99.99	1
UNC119	100.00	1
USH1C	99.99	1
USH1G	100.00	1
USH2A	99.88	1
VCAN	99.99	1
WDPCP	99.87	1
WDR19	99.80	1
WFS1	99.99	1
WHRN	99.96	1
ZNF408	99.99	1
ZNF423	98.94	1
ZNF513	99.97	1