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פאנלים

Retinal disorders

GC_40

Last update: 18.01.2026

Inherited retinal disorders are a heterogeneous group of diseases affecting photoreceptors, the retinal pigment epithelium, or other retinal cells, resulting in progressive visual impairment. Clinical manifestations include night blindness, reduced peripheral or central vision, color vision abnormalities, abnormal electroretinography, and progressive retinal degeneration.

This panel includes genes associated with the major inherited retinal disorders, including retinitis pigmentosa, cone and cone-rod dystrophies, macular dystrophies, Leber congenital amaurosis, inherited stationary retinal disorders, Usher syndrome, and syndromic retinal dystrophies. Representative genes include ABCA4, USH2A, RPGR, RHO, CRB1, CEP290, EYS, RPE65, and BEST1.

This panel is recommended for patients with suspected inherited retinal disease, particularly when the retinal phenotype is broad, progressive, or not clearly attributable to a specific retinal disorder.
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]

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