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

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