GC_38 Anophthalmia Microphthalmia Coloboma
Last update: 18.01.2026
ABCB6, ACTB, ACTG1, ADAMTS18, ALDH1A3, ALX1, ASPH, B3GLCT, BCOR, BMP4, BMP7, C12ORF57, C12orf57, CAPN15, CC2D2A, CDK9, CDON, CHD7, CLDN19, COL4A1, COX7B, CPAMD8, CRYAA, CRYBA4, CYP1B1, DCDC1, ELP4, ERCC2, ERCC5, ERCC6, FAT1, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, FZD5, GDF6, GJA1, GRIP1, HCCS, HESX1, HMGB3, HMX1, IGBP1, ITPR1, KDM6A, KERA, KMT2D, LRP2, MAB21L2, MAF, MFRP, MIR204, MITF, MYRF, NAA10, NDP, NR6A1, OCRL, OTX2, PAX2, PAX6, PIGL, PITX2, PITX3, PLK4, PORCN, PQBP1, PRDM5, PRSS56, PUF60, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, RERE, RPGRIP1L, SALL2, SALL4, SHH, SIPA1L3, SIX3, SIX6, SLC38A8, SMCHD1, SMO, SMOC1, SOX2, STRA6, TBC1D20, TENM3, TFAP2A, TMEM98, TUBGCP4, UBE3B, VAX1, VPS13B, VPS35L, VSX1, VSX2, WNT2B, YAP1, ZDBF2, ZIC2
GC_40 Retinal Disorders
Last update: 18.01.2026
ABCA4, ABCC6, ABCD1, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADAMTSL4, ADGRA3, ADGRV1, ADIPOR1, AFG3L2, AGBL5, AHI1, AHR, AIPL1, AIRE, ALDH3A2, ALMS1, ALPK1, AMACR, AP5B1, AP5M1, AP5Z1, ARHGEF18, ARL13B, ARL2BP, ARL3, ARL6, ARMC9, ARR3, ARSG, ASRGL1, ATF6, ATOH7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C10ORF11, C12ORF65, C19orf44, C1QTNF5, C21ORF2, C2ORF71, C5ORF42, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CCT2, CDH23, CDH3, CDHR1, CEP104, CEP120, CEP164, CEP19, CEP250, CEP290, CEP41, CEP78, CEP83, CERKL, CFAP20, CFAP410, CFAP418, CFH, CHM, CISD2, CLCC1, CLEC3B, CLN2, CLN3, CLN5, CLN6, CLN8, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL18A1, COL2A1, COL4A1, COL9A1, COL9A2, COL9A3, COQ2, COQ5, COQ8B, CPE, CPLANE1, CRB1, CRPPA, CRX, CSPP1, CTC1, CTNNA1, CTNNB1, CTNND1, CTSD, CWC27, CYP2R1, CYP2U1, CYP4V2, DCT, DHDDS, DHX32, DHX38, DMD, DNAJC17, DNAJC5, DRAM2, DSCAML1, DTHD1, DYNC2H1, DYNC2I2, DYRK1A, EFEMP1, EGFLAM, ELOVL1, ELOVL4, EMC1, ERCC6, ERCC8, ESPN, EXOSC2, EYS, FAM161A, FBLN5, FDXR, FLVCR1, FRMD7, FSCN2, FZD4, GDF6, GNAT1, GNAT2, GNB3, GNPTG, GNS, GPATCH11, GPR143, GPR179, GPR45, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS1, HCCS, HGSNAT, HK1, HMCN1, HMX1, IDH3A, IDH3B, IDH3G, IFT140, IFT172, IFT27, IFT43, IFT74, IFT80, IFT81, IFT88, IKBKG, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, ITM2B, JAG1, KATNIP, KCNJ13, KCNV2, KIAA0586, KIAA0753, KIAA1549, KIF11, KIF3B, KIF7, KIZ, KLHL7, LAMA1, LAMP2, LCA5, LIG3, LOXL3, LRAT, LRIT3, LRP2, LRP5, LRRC32, LYST, LZTFL1, MAK, MAN2B1, MAPKAPK3, MCOLN1, MED12, MERTK, MFN2, MFRP, MFSD8, MIR204, MKKS, MKS1, MMACHC, MPDZ, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTPAP, MTRFR, MTTP, MVK, MYO7A, NAGLU, NBAS, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OCA2, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OR2W3, OTX2, P3H2, PANK2, PAX2, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDSS1, PDSS2, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHYH, PISD, PITPNM3, PLA2G5, PLK4, PNPLA6, POC1B, POC5, POMGNT1, POMGNT2, POMT1, PPT1, PRCD, PRDM13, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PYGM, RAB28, RAX2, RBP1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RIMS2, RLBP1, RNU4-2, RNU4ATAC, RNU6-1, RNU6-2, RNU6-8, RNU6-9, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SAMD11, SAMD7, SCAPER, SCLT1, SDCCAG8, SEMA4A, SGSH, SIX6, SLC24A1, SLC24A5, SLC25A46, SLC37A3, SLC38A8, SLC45A2, SLC66A1, SLC6A6, SLC7A14, SNRNP200, SPATA7, SPG11, SPG7, SPP2, SPTLC1, SRD5A3, SSBP1, STN1, STX3, SUMF1, TBC1D32, TCTN1, TCTN2, TCTN3, TEAD1, THRB, TIMM8A, TIMP3, TINF2, TLCD3B, TMED7, TMEM107, TMEM126A, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TOPORS, TPP1, TRAF3IP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBB4B, TUBGCP4, TUBGCP6, TULP1, TYR, TYRP1, UBAP1L, UNC119, USH1C, USH1G, USH2A, USP45, VCAN, VPS13B, VSX2, VWA8, WDPCP, WDR19, WFS1, WHRN, YME1L1, ZFYVE26, ZNF408, ZNF423, ZNF513
ClinVar P/LP variants (IDs) not covered: ADGRV1:[2445626] | ATOH7:[30807] | CEP290:[3774377] | CTNNB1:[4293194] | DMD:[3235708]; [4292852]; [4277362]; [2637520] | GUCY2D:[217300] | LYST:[3602577] | MAN2B1:[3024226] | OCA2:[3238623]; [3238624] | OFD1:[375728] | PANK2:[3897668] | PEX14:[3663959] | SLC45A2:[3238625] | TYR:[3912070]; [4073698]
GC_43 Albinism and Congenital Nystagmus
Last update: 18.01.2026
ABCA3, AHR, AP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, C10ORF11, CACNA1A, CACNA1F, CASK, CLCN7, CLDN11, CNGB3, DCT, DKC1, DTNBP1, EDN3, EDNRB, EPG5, FRMD7, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, KITLG, LAMA1, LRMDA, LYST, MANBA, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, PAX6, RAB27A, SACS, SETX, SFTPB, SFTPC, SLC24A5, SLC38A8, SLC45A2, SOX10, TERC, TERT, TINF2, TPCN2, TULP1, TYR, TYRP1
ClinVar P/LP variants (IDs) not covered: HPS1: [4077138] | LYST:[3602577] | OCA2:[3238623]; [3238624] | PAX3:[4526662] | SLC45A2:[3238625] | TYR:[3912070]; [4073698]
GC_51 Optic Atrophy and Optic Neuropathy
Last update: 16.01.2026
ACO2, AFG3L2, ALPK1, AP3B2, ATAD3A, ATG7, AUH, BLOC1S1, BORCS8, BTD, C12ORF65, C19ORF12, C19orf12, CISD2, DNAJC19, DNAJC30, DNM1L, EPRS1, FDXR, HIKESHI, HK1, HSD17B10, ISCA2, LETM1, LHX2, LRRC8C, MAG, MCAT, MECR, MFF, MFN2, MGME1, MIEF1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTPAP, MTRFR, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA12, NDUFAF3, NDUFS1, NR2F1, OPA1, OPA3, PDSS1, PDXK, POLG, PPIB, PRPS1, RTN4IP1, SLC19A2, SLC19A3, SLC25A46, SLC44A1, SLC52A2, SNF8, SNX10, SPG7, SSBP1, SUCLA2, TFG, TIMM8A, TMEM126A, TSFM, UCHL1, WFS1, YME1L1, ZNHIT3
GC_58 Corneal Dystrophy
Corneal dystrophies are a heterogeneous group of inherited disorders characterized by progressive abnormalities of the corneal epithelium, stroma, or endothelium that may result in recurrent erosions, corneal opacity, impaired vision, or corneal edema. Disease severity and age of onset vary depending on the affected corneal layer and underlying genetic cause.
This panel includes genes associated with the major inherited corneal dystrophies, including epithelial, stromal, endothelial, and posterior corneal dystrophies, such as TGFBI-associated corneal dystrophies, macular corneal dystrophy, Fuchs endothelial corneal dystrophy, congenital hereditary endothelial dystrophy, posterior polymorphous corneal dystrophy, and Schnyder corneal dystrophy. Representative genes include TGFBI, CHST6, COL8A2, SLC4A11, KRT3, KRT12, ZEB1, VSX1, and UBIAD1.
This panel is recommended for patients whose primary clinical abnormality involves the cornea, including inherited corneal opacities, endothelial dysfunction, recurrent corneal erosions, stromal deposits, or progressive corneal clouding.
Last update: 1.01.2026
AP1B1, CHRDL1, CHST6, COL17A1, COL5A1, COL8A2, CYP4V2, DCN, FOXE3, GJA8, GRHL2, GSN, KERA, KRT12, KRT3, LCAT, LOXHD1, LTBP2, MAF, MIR184, NLRP1, NLRP3, OVOL2, PAX6, PIKFYVE, PITX2, PRDM5, PRDX3, PXDN, SLC4A11, STS, TACSTD2, TCF4, TGFBI, UBIAD1, VSX1, ZEB1, ZNF143, ZNF469
ClinVar P/LP variants (IDs) not covered: ZNF469:[974045]; [974146]; [974324]; [974021]; [974113]
GC_60 Myopia
Last update: 07.01.2026
ABCC6, ADAMTS10, ADAMTS17, ADAMTS18, ADAMTS2, ADAMTSL4, AGK, ALDH18A1, ARHGAP31, ARL2, ARR3, ASXL1, ATOH7, B3GALT6, BEST1, BMP4, BSG, CACNA1F, CAPN5, CARS1, CBS, CFAP410, CFAP418, CHST14, CNGA3, CNGB3, COL11A1, COL11A2, COL18A1, COL2A1, COL4A1, COL5A1, COL9A1, COL9A2, COL9A3, CPSF1, CRB1, CTNNB1, CTSH, CYP4V2, DOCK6, DZIP1, ELOVL4, EPHA2, EPHB2, ERBB3, FAM161A, FBN1, FBN2, FGFR3, FKBP14, FZD4, GJA1, GJA8, GNAT1, GNB3, GNPTG, GPR143, GPR179, GRK1, GRM6, GUCY2D, GZF1, HS6ST2, IFIH1, IRX5, JAG1, KCNJ13, KCNV2, KIF11, LAMA1, LOXL3, LRIT3, LRP2, LRP5, LRPAP1, LRRC32, LTBP2, MMADHC, MYCBP2, MYOC, NDP, NDUFAF7, NIPBL, NYX, OAT, OPA1, P3H2, P4HA1, P4HA2, PACS1, PAK2, PAX2, PAX6, PDE6B, PIK3R1, PITX3, PLOD1, PLOD3, POLR3B, POMGNT1, POMT1, PRDM5, PRIMPOL, PROM1, PRPF6, PRPH2, RAB28, RBP3, RCBTB1, RDH5, RHO, RP1, RPE65, RPGR, SAG, SCO2, SLC24A1, SLC38A8, SLC39A5, SLITRK6, SMS, TBC1D24, TFAP2A, TGFBR1, TGFBR2, TNFRSF21, TRPM1, TSPAN12, TTC8, TULP1, VCAN, VPS13B, VSX1, XYLT1, ZNF408, ZNF469, ZNF644
ClinVar P/LP variants (IDs) not covered: ATOH7:[30807] | CTNNB1:[4293194] | FBN1:[3769620]; [3769623]; [3769614]; [3769613]; [3769618]; [3769624] | GUCY2D:[217300] | ZNF469:[974045]; [974146]; [974324]; [974021]; [974113]
GC_65 Cataract
Last update: 07.01.2026
ABCA3, ABCB6, ABHD12, ADAMTS10, ADAMTS18, ADAMTSL4, AGK, AGPS, ALDH18A1, ANAPC1, ATAD3A, B3GLCT, BCOR, BEST1, BFSP1, BFSP2, CDK9, CHMP4B, CLN3, COG4, COL11A1, COL18A1, COL2A1, COL4A1, COL4A2, COPB1, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, CYP51A1, DHCR7, DNMBP, DYRK1A, EIF2B2, EPG5, EPHA2, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, EYA1, FAM126A, FAR1, FOSL2, FOXC1, FOXE3, FTL, FYCO1, FZD4, GALE, GALK1, GALM, GALT, GCNT2, GEMIN4, GFER, GJA1, GJA3, GJA8, GLS, GNPAT, GTF2H5, HMBS, HMX1, HSF4, HTRA2, INPP5K, INTS1, JAM3, LCAT, LEMD2, LETM1, LIM2, LONP1, LSS, MAF, MAN2B1, MED27, MIP, MIR184, MSMO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYH9, NACC1, NDP, NF2, NHS, NUP188, OCRL, OPA3, P3H2, PANK4, PAX6, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGRMC1, PIK3C2A, PITX2, PITX3, PLOD3, POLG, PSMC3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RDH11, RECQL4, RGS6, RIC1, RNLS, RRAGA, SC5D, SIL1, SIPA1L3, SIX6, SLC16A12, SLC2A1, SLC33A1, SMG8, SRD5A3, SREBF1, TBC1D20, TDRD7, TFAP2A, TKFC, TMEM70, UNC45B, VIM, VPS4A, VSX2, WDR87, WFS1, WRN, XYLT2, ZNF526
ClinVar P/LP variants (IDs) not covered: EYA1:[4292662]; [3897900] | GALT:[4541441] | MAN2B1:[3024226] | NF2:[3404989] | NHS:[11030] | PEX14:[3663959]
GC_66 Ectopia Lentis
Ectopia lentis is characterized by displacement or dislocation of the crystalline lens and may occur as an isolated ocular finding or as part of a systemic connective tissue or metabolic disorder. Associated manifestations may include high myopia, glaucoma, retinal detachment, cardiovascular abnormalities, and skeletal features.
This panel includes genes associated with both isolated and syndromic ectopia lentis, including Marfan syndrome, Weill-Marchesani syndrome, homocystinuria, and related connective tissue disorders. Representative genes include FBN1, ADAMTSL4, ADAMTS10, ADAMTS17, CBS, and LTBP2.
This panel is recommended for patients in whom lens subluxation or dislocation is the primary clinical finding, particularly when associated with connective tissue, cardiovascular, or metabolic features suggestive of a hereditary syndrome.
Last update: 07.01.2026
AASS, ADAMTS10, ADAMTS17, ADAMTSL4, ASPH, BCOR, CBS, COL18A1, FBN1, LTBP2, P3H2, PORCN, SUOX, VSX2
ClinVar P/LP variants (IDs) not covered: FFBN1:[3769620]; [3769623]; [3769614]; [3769613]; [3769618]; [3769624]
GC_81 Congenital Stationary Night Blindness ֿ
Last update: 07.01.2026
CABP4, CACNA1F, CACNA2D4, CHM, CYP4V2, FRMD7, GNAT1, GNB3, GPR179, GRK1, GRM6, GUCY2D, LRIT3, NYX, PDE6B, RBP4, RDH5, RHO, RLBP1, RPE65, SAG, SLC24A1, TRPM1
ClinVar P/LP variants (IDs) not covered: GUCY2D: [217300]
GC_83 Neuro-Ophthalmology
Last update: 07.01.2026
ACO2, AFG3L2, ANGPT1, ANTXR1, APTX, ASB10, ATAD3A, AUH, C10ORF2, C12ORF65, C19ORF12, CHN1, CISD2, CPAMD8, CYP1B1, DNAJC19, DNM1L, ELP4, FDXR, FOXC1, FOXD3, FRMD7, GPR143, HESX1, ISCA2, KIF21A, LTBP2, MECR, MFN2, MGME1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTPAP, MYOC, NARS2, NDUFAF3, NDUFS1, NR2F1, NTF4, OPA1, OPA3, OPTN, OTX2, PAX6, PDSS1, PHOX2A, POLG, PRPS1, PXDN, ROBO3, RRM2B, RTN4IP1, SALL4, SETX, SLC19A2, SLC19A3, SLC25A4, SLC25A46, SLC38A8, SLC52A2, SNX10, SOX2, SPATA13, SPG7, SSBP1, SUCLA2, TEK, TIMM8A, TK2, TMEM126A, TP53BP2, TRIM44, TSFM, TUBB3, TYMP, UCHL1, WDR36, WFS1, YME1L1, ZNHIT3
ClinVar P/LP variants (IDs) not covered: TK2: [3778875]
GC_85 Glaucoma
Last update: 07.01.2026
ADAMTS10, ADAMTS17, AFG3L2, ANGPT1, ASB10, ATOH7, BMP4, CNTNAP2, COL4A1, COL8A2, CPAMD8, CREBBP, CYP1B1, DDX58, ELP4, EXO5, FOXC1, FOXD3, FOXE3, GJA1, IFIH1, LMX1B, LTBP2, MAF, MFRP, MYOC, NTF4, OCRL, OPA1, OPA3, OPTN, PAX6, PIK3R1, PITX2, PITX3, PRPF8, PRSS56, PXDN, SBF2, SH3PXD2B, SIX6, SLC4A4, SPATA13, SSBP1, TBK1, TEK, TMEM126A, TP53BP2, TRIM44, WDR36
ClinVar P/LP variants (IDs) not covered: ATOH7:[30807] | LMX1B:[4292043]