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Table 2 Lists of genes analyzed in focused exome data analyses. The HPO panels were generated using the gene-phenotype associations in Human Phenotype Ontology project data. Other panels were constructed based on the existing gene-disease associations

From: Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report

Virtual gene panel List of genes in the panel
1 gene associated with optic nerve drusen presentation MFRP
132 genes, associated with a broad set of genes associated with cataract phenotype (HP:0000518) ABCB6, ADAMTS10, ADAMTSL4, AGK, AGPS, AKR1E2, ALDH18A1, B3GALTL, BCOR, BFSP1, BFSP2, CBS, CHMP4B, COL11A1, COL18A1, COL2A1, COL4A1, COL4A2, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CUTL1, CYP27A1, CYP51A1, DHCR7, EPG5, EPHA2, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, EYA1, FAM126A, FBN1, FKRP, FKTN, FOXC1, FOXD3, FOXE3, FTL, FYCO1, FZD4, GALK1, GALT, GCNT2, GJA1, GJA3, GJA8, GLA, GNPAT, HMX1, HSF4, JAM3, L1CAM, LARGE, LEPREL1, LIM2, LMX1B, LRP5, LTBP2, MAF, MAN2B1, MFSD6L, MIP, MIR184, MYH9, NDP, NF2, NHS, OCRL, OPA3, PAX6, PEX1, PEX10, PEX11β, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5L, PEX6, PEX7, PITX2, PITX3, POMT1, POMT2, PVRL3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL2, RECQL4, RNLS, SC5DL, SEC23A, SIL1, SIX5, SIX6, SLC16A12, SLC2A1, SLC33A1, SOLH, SORD, SOX2, SRD5A3, SREBF2, TBC1D20, TDRD7, TFAP2A, TMEM114, TMEM70, VAV2, VAV3, VIM, VSX2, WFS1
255 genes in an expanded eye panel ABCA4, ABHD12, ACAD11, ADAM9, AHI1, AIPL1, ALMS1, ALX3, ALX4, ANK2, ANKRD1, ANO5, AP3B1, ARL13B, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCOR, BEST1, BLOC1S3, BLOC1S6, BMP4, C1QTNF5, C2orf71, C2ORF71, C5orf42, C8orf37, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CCDC28B, CDH23, CDH3, CDHR1, CEP164, CEP290, CEP41, CERKL, CHM, CIB2, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, CRB1, CRX, CRYBA4, CYP1B1, CYP4V2, DFNB31, DHDDS, DHODH, DTNBP1, EFEMP1, EFNB1, ELOVL4, EVC, EVC2, EYS, FAM161A, FKRP, FKTN, FLVCR1, FOXC1, FOXE3, FRAS1, FREM1, FREM2, FSCN2, FZD4, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GPR98, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HARS, HCCS, HMCN1, HPS1, HPS3, HPS4, HPS5, HPS6, IDH3B, IL11RA, IMPDH1, IMPG2, INPP5E, INVS, IQCB1, JAG1, KCNJ13, KCNV2, KIF7, KLHL7, LARGE, LCA5, LRAT, LRIT3, LRP5, LYST, LZTFL1, MAK, MC1R, MERTK, MFN2, MFRP, MKKS, MKS1, MSX2, MTTP, MYO7A, MYOC, NDP, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPTN, OTX2, PANK2, PAX2, PAX6, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX2, PEX26, PEX7, PHYH, PITPNM3, PITX2, PITX3, PLA2G5, POLR1C, POMGNT1, POMT1, POMT2, PRCD, PROM1, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RAB28, RAX2, RB1, RBP3, RBP4, RD3, RDH12, RDH5, RECQL4, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SDCCAG8, SEMA4A, SIX6, SLC24A1, SLC45A2, SMOC1, SNRNP200, SOX2, SPATA7, SPG7, STRA6, TCOF1, TCTN1, TCTN2, TCTN3, TIMM8A, TIMP3, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TREX1, TRIM32, TRPM1, TSPAN12, TTC21B, TTC8, TTPA, TULP1, TWIST1, TYR, TYRP1, UNC119, USH1C, USH1G, USH2A, VAX1, VCAN, VPS13B, VSX2, WDPCP, WFS1, ZNF423, ZNF513