NGS Cone-rod dystrophie en macula degeneratie

Panel naam	NGS Cone-rod dystrophie en macula degeneratie
Panel methode	Targeted NGS
Panel versie **	BHv9 / CRDtypeAv5
Panel kwaliteit ***	A/C
Core-NL	Geen core-NL genen inbegrepen
CNV analyse	Nee
Locatie	Locatie AMC

Genen (311)	Kwaliteit	% coverage >30	% coverage >20	Core-NL	Notitie
ABCA4	A
ABCB6	C
ABCC6	C
ABHD12	C
ACBD5	C
ACO2	C
ADAM9	A
ADAMTS18	C
ADGRA3	C
ADGRV1	C
ADIPOR1	C
AFG3L2	C
AGBL5	C
AHI1	C
AHR	C
AIPL1	A
ALMS1	C
ALPK1	C
AMACR	C
ARHGEF18	C
ARL2BP	C
ARL3	C
ARL6	C
ARR3	C
ARSG	C
ASRGL1	C
ATF6	A
ATXN7	C
BBIP1	C
BBS1	C
BBS10	C
BBS12	C
BBS2	C
BBS4	C
BBS5	C
BBS7	C
BBS9	C
BCOR	C
BEST1	A
BMP4	C
C1QTNF5	A
CA4	C
CABP4	C
CACNA1F	A
CACNA2D4	C
CAPN5	C
CC2D2A	C
CCT2	C
CDH23	C
CDH3	C
CDHR1	A
CEP164	C
CEP19	C
CEP250	C
CEP290	C
CEP41	C
CEP78	A
CERKL	A
CFAP410	A
CFAP418	A
CFH	A
CHM	C
CIB2	C
CLCC1	C
CLN3	C
CLRN1	C
CLUAP1	C
CNGA1	C
CNGA3	A
CNGB1	C
CNGB3	A
CNNM4	A
COL11A1	C
COL2A1	C
COL9A1	C
COL9A2	C
CPLANE1	C
CPSF1	C
CRB1	C
CRX	A
CSPP1	C
CTNNA1	A
CTSD	C
CWC27	C
CYP4V2	C
DHDDS	C
DHX38	C
DHX40	C
DRAM2	C
DTHD1	C
DYNC2H1	C
EFEMP1	C
ELOVL1	C
ELOVL4	A
EMC1	C
ESPN	C
EXOSC2	C
EYS	C
FAM161A	C
FLVCR1	C
FOXE3	C
FSCN2	C
FZD4	C
GDF6	C
GDPD1	C
GNAT1	C
GNAT2	C
GNB3	C
GNPTG	C
GPR179	C
GRK1	C
GRM6	C
GUCA1A	A
GUCA1B	A
GUCY2D	A
HARS1	C
HCCS	C
HGSNAT	C
HK1	C
HMCN1	C
HMX1	C
IDH3A	C
IDH3B	C
IFT140	C
IFT172	C
IFT27	C
IFT43	C
IFT74	C
IFT81	C
IMPDH1	C
IMPG1	A
IMPG2	C
INPP5E	C
INVS	C
IQCB1	C
ITM2B	C
JAG1	C
KCNJ13	C
KCNV2	A
KIAA1549	C
KIF11	C
KIF3B	C
KIZ	C
KLHL7	C
LAMA1	C
LCA5	C
LRAT	C
LRIT3	C
LRP5	C
LRPAP1	C
LZTFL1	C
MAK	C
MAPKAPK3	C
MERTK	C
MFN2	C
MFRP	C
MFSD8	A
MIR204	C
MKKS	C
MKS1	C
MMACHC	A
MTRFR	C
MTTP	C
MVK	C
MYO7A	C
NBAS	C
NDP	C
NEK2	C
NEUROD1	C
NMNAT1	C
NPHP1	C
NPHP3	C
NPHP4	C
NR2E3	C
NR2F1	C
NRL	C
NYX	C
OAT	C
OFD1	C
OPA1	C
OPA3	C
OPN1SW	C
OR2W3	C
OTX2	C
P3H2	C
P4HA2	C
PANK2	C
PAX2	C
PAX6	C
PCARE	C
PCDH15	C
PCYT1A	C
PDE6A	C
PDE6B	C
PDE6C	A
PDE6G	C
PDE6H	A
PDSS1	C
PDZD7	C
PEX1	C
PEX2	C
PEX6	C
PEX7	C
PGK1	C
PHYH	C
PITPNM3	C
PLA2G5	C
PLK4	C
PNPLA6	C
POC1B	A
POC5	C
POMGNT1	C
PPT1	C
PRCD	C
PRDM13	C
PRIMPOL	C
PROM1	A
PRPF3	C
PRPF31	C
PRPF4	C
PRPF6	C
PRPF8	C
PRPH2	A
PRPS1	C
PXDN	C
RAB28	A
RAX2	C
RBP3	C
RBP4	C
RCBTB1	C
RD3	C
RDH11	C
RDH12	C
RDH5	A
REEP6	C
RGR	C
RGS9	C
RGS9BP	C
RHO	C
RIMS1	A
RIMS2	C
RLBP1	C
ROM1	C
RP1	C
RP1L1	A
RP2	C
RP9	C
RPE65	C
RPGR	C
RPGRIP1	A
RPGRIP1L	C
RS1	C
RTN4IP1	C
SAG	C
SAMD11	C
SCAPER	C
SCO2	C
SDCCAG8	C
SEMA4A	A
SF3B2	C
SIX6	C
SLC19A2	C
SLC24A1	C
SLC25A46	C
SLC39A5	C
SLC4A7	C
SLC7A14	C
SMG8	C
SNRNP200	C
SPATA7	C
SPP2	C
SRD5A3	C
TEAD1	C
TIMM8A	C
TIMP3	A
TMEM126A	C
TMEM216	C
TMEM237	C
TMEM67	C
TOPORS	C
TRAF3IP1	C
TREX1	C
TRIM32	C
TRNT1	C
TRPM1	C
TSPAN12	C
TTC8	C
TTLL5	A
TTPA	C
TUB	C
TUBB4B	C
TUBGCP4	C
TUBGCP6	C
TULP1	C
UNC119	A
USH1C	C
USH1G	C
USH2A	C
USP45	C
VCAN	C
VPS13B	C
VWA8	C
WDPCP	C
WDR19	C
WFS1	C
WHRN	C
YPEL2	C
ZNF408	C
ZNF423	C
ZNF513	C
ZNF644	C

Indicatie(s)
Achromatopsie
Macula dystrophie (vitelliform) ziekte van Best
Pseudoxanthoma Elasticum PXE
PXE-like
Retinoschisis
Stargardt, ziekte van

** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek

*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C