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NGS Vision disorder CSNB

Panel name NGS Vision disorder CSNB
Panel method Targeted NGS
Panel version ** BHv7
Panel quality *** C
Core-NL No core-NL genes included
CNV analysis No
Location Location AMC
Genes (292) Quality % coverage >30 % coverage >20 Core-NL Note
ABCA4 C
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 C
ARL2BP C
ARL3 C
ARL6 C
ARSG C
ASRGL1 C
ATF6 C
ATXN7 C
BBIP1 C
BBS1 C
BBS10 C
BBS12 C
BBS2 C
BBS4 C
BBS5 C
BBS7 C
BBS9 C
BCOR C
BEST1 C
BMP4 C
C1QTNF5 C
CA4 C
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 C
CFAP410 C
CFAP418 C
CFH C
CHM C
CIB2 C
CLCC1 C
CLN3 C
CLRN1 C
CLUAP1 C
CNGA1 C
CNGA3 C
CNGB1 C
CNGB3 C
CNNM4 C
COL11A1 C
COL2A1 C
COL9A1 C
COL9A2 C
CPLANE1 C
CRB1 C
CRX C
CSPP1 C
CTNNA1 C
CWC27 C
CYP4V2 C
DHDDS C
DHX38 C
DHX40 C
DRAM2 C
DTHD1 C
EFEMP1 C
ELOVL1 C
ELOVL4 C
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 C
GUCA1B C
GUCY2D C
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 C
IMPG2 C
INPP5E C
INVS C
IQCB1 C
ITM2B C
JAG1 C
KCNJ13 C
KCNV2 C
KIAA1549 C
KIF11 C
KIZ C
KLHL7 C
LAMA1 C
LCA5 C
LRAT C
LRIT3 C
LRP5 C
LZTFL1 C
MAK C
MAPKAPK3 C
MERTK C
MFN2 C
MFRP C
MFSD8 C
MIR204 C
MKKS C
MKS1 C
MMACHC C
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
PANK2 C
PAX2 C
PAX6 C
PCARE C
PCDH15 C
PCYT1A C
PDE6A C
PDE6B C
PDE6C C
PDE6G C
PDE6H C
PDZD7 C
PEX1 C
PEX2 C
PEX7 C
PGK1 C
PHYH C
PITPNM3 C
PLA2G5 C
PLK4 C
PNPLA6 C
POC1B C
POC5 C
POMGNT1 C
PRCD C
PRDM13 C
PROM1 C
PRPF3 C
PRPF31 C
PRPF4 C
PRPF6 C
PRPF8 C
PRPH2 C
PRPS1 C
PXDN C
RAB28 C
RAX2 C
RBP3 C
RBP4 C
RCBTB1 C
RD3 C
RDH11 C
RDH12 C
RDH5 C
REEP6 C
RGR C
RGS9 C
RGS9BP C
RHO C
RIMS1 C
RLBP1 C
ROM1 C
RP1 C
RP1L1 C
RP2 C
RP9 C
RPE65 C
RPGR C
RPGRIP1 C
RPGRIP1L C
RS1 C
RTN4IP1 C
SAG C
SAMD11 C
SCAPER C
SDCCAG8 C
SEMA4A C
SF3B2 C
SIX6 C
SLC19A2 C
SLC24A1 C
SLC25A46 C
SLC7A14 C
SMG8 C
SNRNP200 C
SPATA7 C
SPP2 C
SRD5A3 C
TEAD1 C
TIMM8A C
TIMP3 C
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 C
TTPA C
TUB C
TUBB4B C
TUBGCP4 C
TUBGCP6 C
TULP1 C
UNC119 C
USH1C C
USH1G C
USH2A C
USP45 C
VCAN C
VPS13B C
WDPCP C
WDR19 C
WFS1 C
WHRN C
YPEL2 C
ZNF408 C
ZNF423 C
ZNF513 C
Indication(s)
Vision impairment

** 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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