Die hier aufgeführten Gene werden mittels Hochdurchsatzsequenzierung analysiert. Es handelt sich dabei um eine Auswahl von Hauptgenen, die in bisherigen Untersuchungen bzw. publizierten Studien die Mehrzahl der pathogenen Sequenzvarianten tragen. Deshalb sind nicht alle Gene gelistet, die bei unseren Analysen berücksichtigt werden.
Augenkrankheiten
- Achromatopsie: ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, RGS9, RGS9BP
- Bardet Biedl Syndrom (BBS): ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, C8ORF37, CEP290, IFT172, IFT27, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TMEM67, TRIM32, TTC8, TTC21B, WDPCP
- Congenitale stationäre Nachtblindheit: CABP4, CACNA1F, CACNA2D4, GNAT1, GNB3, GPR179, GRM6, LRIT3, NYX, PDE6B, RHO, SLC24A1, TRPM1
- Erosive Vitreoretinopathie (Morbus Wagner, Morbus Stickler): COL2A1, COL9A1, COL9A2 , COL9A3 , COL11A1 , COL11A2 , LOXL3, LRP2 , VCAN
- Exsudative Vitreoretinopathie (EVR): ATOH7, CTNNB1, FZD4, KIF11, LRP5, NDP, RCBTB1, RS1, TSPAN12, ZNF408
- Katarakt: AGK, BCOR, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, CYP51A1, EFNA5, EPHA2, FOXE3, FYCO1, GJA3, GJA8, HSF4, IARS2, LEMD2, LIM2, LSS, LONP1, MAF, MIP, PITX3, POLG, TDRD7, VSX2, WFS1
- Lebers'sche congenitale Amaurose (LCA): AIPL1 , ALMS1, BBS4 , CABP4, CEP290, CNGA3, CRB1, CRX, CWC27, DTHD1, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, MERTK, MYO7A, NMNAT1, RD3, RDH5, RDH12, RPE65, RPGRIP1, SPATA7, TULP1
- Makuladystrophien: ABCA4, BEST1, C1QTNF5, CDH3, CERKL, CNGB3, CRB1, CRX, CTNNA1, DRAM2, EFEMP1, ELOVL4, IMPG1, IMPG2, MFSD8, PRDM13, PROM1, PRPH2, RAX2, RDH5, RDH12, RLBP1, RP1L1, RPGR, RS1, TIMP3
- Nachtblindheit: CABP4, CACNA1F, GPR179, GRK1, GRM6, LRIT3, NYX, PDE6B, RHO, SAG, SLC2A1
- Netzhautdystrophien: ABCA4, ABHD12, ACO2, ADAMTS18, ADGRV1, AHI1, AIPL1, ALMS1, ARL6, ARMC9, ATF6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, BEST1, C2ORF71, C5ORF42, C8ORF37, C21ORF2, CABP4, CACNA1F, CC2D2A, CDH3, CDH23, CDHR1, CEP290, CERKL, CHM, CIB2, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL2A1, COL9A2, COL9A3, COL11A1, COL11A2, COL18A1, CRB1, CRX, CSPP1, CTC1, CTNNB1, CYP4V2, DFNB31, ELOVL4, EYS, FAM161A, FLVCR1, FRMD7, FZD4, GNAT2, GNPTG, GPR179, GRM6, GUCA1A, GUCY2D, HGSNAT, IFT140, IFT172, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, JAG1, KCNV2, KIAA0586, KIF7, KIF11, KLHL7, LCA5, LRAT, LRP2, LRP5, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MMACHC, MTTP, MVK, MYO7A, NDP, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OTX2, PANK2, PAX2, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDZD7, PEX1, PEX2, PEX5, PEX6, PEX7, PEX10, PEX12, PEX16, PEX26, PHYH, PITPNM3, PNPLA6, PRKCG, PROM1, PRPF8, PRPF31, PRPH2, PRPS1, RAX2, RBP3, RD3, RDH5, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC25A46, SNRNP200, SPATA7, TCTN2, TIMM8A, TIMP3, TMEM67, TMEM231, TMEM237, TOPORS, TRAF3IP1, TREX1, TRIM32, TRPM1, TSPAN12, TTC8, TTC21B, TTPA, TULP1, UNC119, USH1C, USH1G, USH2A, VCAN, VPS13B, WDR19, WFS1
- Optikusatrophie: ACO2, C12ORF65, CISD2, FDXR, MFN2, NDUFS1, NR2F1, OPA1, OPA3, POLG, PRPS1, RTN4IP1, SLC25A46, SLC52A2, SNX10, SPG7, TIMM8A, TMEM126A, WFS1
- Retinitis Pigmentosa (dominant oder rezessiv): ABCA4, ARL6, BBS1, BEST1, C2orf71, C8orf37, CA4, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GNPTG, GUCA1B, IDH3B, IMPDH1, IMPG2, KLHL7, LRAT, MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, RP1, RP2, RP9, RPE65, RPGR, PROM1, SAG, SEMA4A, SNRNP200, SPATA7, TTC8, TOPORS, TULP1, USH2A, ZNF513
- Stäbchen-Zapfen-Dystrophien: ABCA4, ARL6, BBS1, BEST1, C2orf71, C8orf37, CA4, CABP4, CACNA1F, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GNPTG, GRM6, GPR179, GUCA1B, IDH3B, IMPDH1, IMPG2, KLHL7, LRAT, MAK, MERTK, NR2E3, NRL, NYX, PDE6A, PDE6B, PDE6G, PRCD, PRPF3, PRPF31, PRPF6, PRPF8, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, RP1, RP2, RP9, RPE65, RPGR, PROM1, SAG, SEMA4A, SNRNP200, SPATA7, TTC8, TOPORS, TRPM1, TULP1, USH2A, ZNF513
- Usher Syndrom: ABHD12, ADGRV1, CDH23, CEP78, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, PEX1, USH1C, USH1G, USH2A, WHRN
- Zapfen-Stäbchen-Dystrophien: ABCA4, ADAM9, ADAMTS18, AIPL1, ARHGEF18, BEST1, C8ORF37, C21ORF2, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP78, CERKL, CLN3, CNGA3, CNGB3, CNNM4, CRB1, CRX, CYP4V2, GNAT2, GUCA1A, GUCY2D, KCNV2, MERTK, PDE6C, PDE6H, PITPNM3, POC1B, PROM1#, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5, UNC119
Neurologische und neuromuskuläre Krankheiten
- Ataxien: COQ8A, AFG3L2, APTX, ATM, CACNA1A, CAMTA1, FXN, ITPR1, KCNA1, KCND3, KCNJ10, MRE11A, PNKP, POLG, PRKCG, SACS, SETX, SPG7, SPTBN2, STUB1, SYNE1, TGM6, TTPA
