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NGS Retinitis pigmentosa

Panel name NGS Retinitis pigmentosa
Panel method Targeted NGS
Panel version ** BHv7 / RPtypeAv4
Panel quality *** A/C
Core-NL No core-NL genes included
CNV analysis No
Location Location AMC
Genes (419) Quality % coverage >30 % coverage >20 Core-NL Note
ABCA4 A
ABCB6 C
ABCC6 C
ABHD12 C
ACBD5 C
ACO2 C
ADAM9 C
ADAMTS18 C
ADGRA3 C
ADGRV1 C
ADIPOR1 C
AFG3L2 C
AGBL5 C
AHI1 C
AHR C
AIPL1 C
ALMS1 C
AMACR C
ARHGEF18 A
ARL2BP A
ARL3 A
ARL6 A
ARSG C
ASRGL1 C
ATF6 C
ATXN7 C
BBIP1 C
BBS1 A
BBS10 C
BBS12 C
BBS2 A
BBS4 C
BBS5 C
BBS7 C
BBS9 C
BCOR C
BEST1 A
BMP4 C
C12orf65 C
C1QTNF5 C
C8orf37 A
CA4 A
CABP4 C
CACNA1F C
CACNA2D4 C
CAPN5 C
CC2D2A C
CCT2 C
CDH23 C
CDH3 C
CDHR1 C
CEP164 C
CEP19 C
CEP250 C
CEP290 C
CEP41 C
CEP78 C
CERKL A
CFAP410 C
CFH C
CHM C
CIB2 C
CLCC1 C
CLN3 C
CLRN1 A
CLUAP1 C
CNGA1 A
CNGA3 C
CNGB1 A
CNGB3 C
CNNM4 C
COL11A1 C
COL2A1 C
COL9A1 C
COL9A2 C
CPLANE1 C
CRB1 A
CRX A
CSPP1 C
CTNNA1 C
CWC27 C
CYP4V2 A
DHDDS A
DHX38 A
DHX40 C
DRAM2 C
DTHD1 C
EFEMP1 C
ELOVL1 C
ELOVL4 C
EMC1 A
ESPN C
EXOSC2 C
EYS A
FAM161A A
FLVCR1 C
FOXE3 C
FSCN2 A
FZD4 C
GDF6 C
GDPD1 C
GNAT1 C
GNAT2 C
GNB3 C
GNPTG C
GPR179 C
GRK1 C
GRM6 C
GUCA1A C
GUCA1B A
GUCY2D C
HARS1 C
HCCS C
HGSNAT C
HK1 C
HMCN1 C
HMX1 C
IDH3A C
IDH3B A
IFT140 C
IFT172 A
IFT27 C
IFT43 C
IFT74 C
IFT81 C
IMPDH1 A
IMPG1 C
IMPG2 A
INPP5E C
INVS C
IQCB1 C
ITM2B C
JAG1 C
KCNJ13 C
KCNV2 C
KIAA1549 C
KIF11 C
KIZ A
KLHL7 A
LAMA1 C
LCA5 C
LRAT A
LRIT3 C
LRP5 C
LZTFL1 C
MAK A
MAPKAPK3 C
MERTK A
MFN2 C
MFRP C
MFSD8 C
MIR204 C
MKKS C
MKS1 C
MMACHC C
MTTP C
MVK A
MYO7A C
NBAS C
NDP C
NEK2 C
NEUROD1 C
NMNAT1 C
NPHP1 C
NPHP3 C
NPHP4 C
NPHP4 C
NR2E3 A
NR2E3 A
NR2F1 C
NR2F1 C
NRL A
NRL A
NYX C
NYX C
OAT C
OAT C
OFD1 A
OFD1 A
OPA1 C
OPA1 C
OPA3 C
OPA3 C
OPN1SW C
OPN1SW C
OR2W3 C
OR2W3 C
OTX2 C
OTX2 C
PANK2 C
PANK2 C
PAX2 C
PAX2 C
PAX6 C
PAX6 C
PCARE A
PCARE A
PCDH15 C
PCDH15 C
PCYT1A C
PCYT1A C
PDE6A A
PDE6A A
PDE6B A
PDE6B A
PDE6C C
PDE6C C
PDE6G A
PDE6G A
PDE6H C
PDE6H C
PDZD7 C
PDZD7 C
PEX1 C
PEX1 C
PEX2 C
PEX2 C
PEX7 C
PEX7 C
PGK1 C
PGK1 C
PHYH C
PHYH C
PITPNM3 C
PITPNM3 C
PLA2G5 C
PLA2G5 C
PLK4 C
PLK4 C
PNPLA6 C
PNPLA6 C
POC1B C
POC1B C
POC5 C
POC5 C
POMGNT1 A
POMGNT1 A
PRCD A
PRCD A
PRDM13 C
PRDM13 C
PROM1 A
PROM1 A
PRPF3 A
PRPF3 A
PRPF31 A
PRPF31 A
PRPF4 A
PRPF4 A
PRPF6 A
PRPF6 A
PRPF8 A
PRPF8 A
PRPH2 A
PRPH2 A
PRPS1 C
PRPS1 C
PXDN C
PXDN C
RAB28 C
RAB28 C
RAX2 C
RAX2 C
RBP3 A
RBP3 A
RBP4 C
RBP4 C
RCBTB1 C
RCBTB1 C
RD3 C
RD3 C
RDH11 C
RDH11 C
RDH12 A
RDH12 A
RDH5 C
RDH5 C
REEP6 A
REEP6 A
RGR A
RGR A
RGS9 C
RGS9 C
RGS9BP C
RGS9BP C
RHO A
RHO A
RIMS1 C
RIMS1 C
RLBP1 A
RLBP1 A
ROM1 A
ROM1 A
RP1 A
RP1 A
RP1L1 A
RP1L1 A
RP2 A
RP2 A
RP9 A
RP9 A
RPE65 A
RPE65 A
RPGR C
RPGR C
RPGRIP1 C
RPGRIP1 C
RPGRIP1L C
RPGRIP1L C
RS1 C
RS1 C
RTN4IP1 C
RTN4IP1 C
SAG A
SAG A
SAMD11 C
SAMD11 C
SCAPER C
SCAPER C
SDCCAG8 C
SDCCAG8 C
SEMA4A A
SEMA4A A
SF3B2 C
SF3B2 C
SIX6 C
SIX6 C
SLC19A2 C
SLC19A2 C
SLC24A1 C
SLC24A1 C
SLC25A46 C
SLC25A46 C
SLC7A14 A
SLC7A14 A
SMG8 C
SMG8 C
SNRNP200 A
SNRNP200 A
SPATA7 A
SPATA7 A
SPP2 A
SPP2 A
SRD5A3 C
SRD5A3 C
TEAD1 C
TEAD1 C
TIMM8A C
TIMM8A C
TIMP3 C
TIMP3 C
TMEM126A C
TMEM126A C
TMEM216 C
TMEM216 C
TMEM237 C
TMEM237 C
TMEM67 C
TMEM67 C
TOPORS A
TOPORS A
TRAF3IP1 C
TRAF3IP1 C
TREX1 C
TREX1 C
TRIM32 C
TRIM32 C
TRNT1 C
TRNT1 C
TRPM1 C
TRPM1 C
TSPAN12 C
TSPAN12 C
TTC8 A
TTC8 A
TTLL5 C
TTLL5 C
TTPA C
TTPA C
TUB C
TUB C
TUBB4B C
TUBB4B C
TUBGCP4 C
TUBGCP4 C
TUBGCP6 C
TUBGCP6 C
TULP1 A
TULP1 A
UNC119 C
UNC119 C
USH1C C
USH1C C
USH1G C
USH1G C
USH2A A
USH2A A
USP45 C
USP45 C
VCAN C
VCAN C
VPS13B C
VPS13B C
WDPCP C
WDPCP C
WDR19 C
WDR19 C
WFS1 C
WFS1 C
WHRN C
WHRN C
YPEL2 C
YPEL2 C
ZNF408 C
ZNF408 C
ZNF423 C
ZNF423 C
ZNF513 A
ZNF513 A
Indication(s)
Retinitis pigmentosa
Retinitis pigmentosa, X-linked

** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory

*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C


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