Genes
(full coding
region): |
ABCA4, ABCB6, ABCC6, ABHD12, ACBD5, ADAM9, ADAMTS18, ADGRV1, AGK, AHI1, AIPL1, ALMS1 (excluding exon 8), ARL13B, ARL6, ATF6, B3GLCT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BFSP2, BMP4, C19ORF12, C1QTNF5, C2orf71, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CDH23, CDH3, CDHR1, CEP290, CEP41, CERKL, CFAP410 (C21orf2), CFH, CHM, CHMP4B, CHST6, CIB2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL4A1, COL4A6, COL8A2, COL9A1, COL9A2, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CTNNA1, CTSD, CYP1B1, CYP4V2, DCN, DHDDS, DSPP, EFEMP1, ELOVL4, EPHA2, EYS, FAM161A, FLVCR1, FRAS1, FREM1, FREM2, FSCN2, FTL, FYCO1, FZD4, GALK1, GALT, GDF3, GDF6, GFER, GIPC3, GJA1, GJA3, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GRIP1, GRK1, GRM6, GRN, GSN, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HMX1, HSF4, IDH3B, IFT140, IMPDH1, IMPG1, IMPG2, INVS, ITM2B, IQCB1, JAG1, JAM3, KARS1, KCNJ13, KCNV2, KIF11, KIF7, KIF21A, KLHL7, KRT12, KRT3, LAMA1, LCA5, LHFPL5, LIM2, LOXHD1, LRAT, LRP5, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MIP, MKKS, MKS1, MTTP, MVK, MYO7A, MYOC, NAA10, NDP, NHS, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OFD1, OPA1, OPA3, OPN1MW, OTX2, PANK2, PAX2, PAX6, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX7, PHOX2A, PHYH, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, POC1B, PPT1, PRCD, PRDM5, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, PRSS56, RAB28, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR (excluding ORF15), RPGRIP1, RPGRIP1L, RS1, SAG, SDCCAG8, SEMA4A, SIX6, SLC24A1, SLC45A2, SLC4A11, SMOC1, SNRNP200, SOX2, SPATA7, STRA6, TACSTD2, TCTN1, TCTN2, TDRD7, TEAD1, TGFBI, TIMM8A, TIMP3, TMEM126A, TMEM138, TMEM216, TMEM237, TMEM67, TNC, TOPORS, TPP1, TREX1, TRIM32, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TUBB3, TUBB2B, TULP1, TYR, TYRP1, UBIAD1, UNC119, USH1C, USH1G, USH2A, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WDPCP, WDR19, WFS1, WHRN, YAP1, ZEB1, ZNF469, ZNF513, ZNF644
List of diseases covered by the panel |
