Oftalmología | inGene diagnostics
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Oftalmología

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Resultado búsqueda

Albinismo oculo-cutáneo

7 genes

LRMDA, MC1R, OCA2, SLC24A5, SLC45A2, TYR, TYRP1

Amaurosis congénita de Leber

20 genes

AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, KCNJ13, LCA5, LRAT, NMNAT1, PRPH2, RD3, RDH12, ROM1, RPE65, RPGRIP1, SPATA7, TULP1, USP45

Amiloidosis familiar

21 genes

APOA1, APOA2, APP, B2M, CST3, F10, FGA, GPNMB, GSN, IL31RA, ITM2B, LYZ, MEFV, NLRP3, OSMR, PRNP, RET, TACSTD2, TGFBI, TNFRSF1A, TTR

Atrofia óptica

59 genes

ACO2, AFG3L2, ANTXR1, ATP1A3, AUH, BCS1L, C12ORF65, CISD2, COX10, COX15, DNM1L, EDN1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FDXR, FOXRED1, GLRX5, GP1BA, MFN2, MTPAP, MYOC, NBAS, NDUFA1, NDUFA10, NDUFA13, NDUFA2, NDUFA9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS8, NEFH, NMNAT1, NOTCH3, NR2F1, OPA1, OPA3, PAX6, PDSS1, PLA2G6, POLG, PRPS1, RTN4IP1, SDHA, SLC25A46, SLC52A2, SNX10, SPG7, SURF1, TIMM8A, TMEM126A, TSFM, TWNK, WFS1, ZNF592

Cataratas

131 genes

ABHD12, ADAMTSL4, AGK, ALDH18A1, BCOR, BEST1, BFSP1, BFSP2, BUB1B, CHMP4B, CLPB, COL11A1, COL18A1, COL2A1, COL4A1, COL9A2, CREBBP, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, DAG1, DHCR7, DMPK, EPHA2, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, EYA1, FAM126A, FBN1, FKTN, FLNB, FOXC1, FOXE3, FTL, FYCO1, FZD4, GALK1, GALT, GCNT2, GFER, GJA1, GJA3, GJA8, GMPPB, GNPAT, HCCS, HMX1, HSF4, IARS2, JAM3, KCNJ13, LARGE1, LCT, LEMD2, LIM2, LMX1B, LRP5, LSS, MAF, MIP, MSMO1, MVK, MYH9, NDP, NF2, NHS, OCRL, OPA3, OTX2, P3H2, PAX6, PEX1, PEX11B, PEX12, PEX13, PEX16, PEX2, PEX26, PEX3, PEX5, PEX7, PITX2, PITX3, POMGNT1, POMT1, POMT2, PTCH1, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL4, RXYLT1, SC5D, SEC23A, SIL1, SIPA1L3, SIX6, SLC16A12, SLC2A1, SLC33A1, SLC4A4, TBC1D20, TDRD7, TFAP2A, TMEM114, TMEM70, UNC45B, VCAN, VIM, VSX2, WFS1, WNT3, WRN, WT1

Diplopía

65 genes

AGRN, AIP, ANO10, ATP1A2, ATXN3, CACNA1A, CACNA1G, CDH23, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, DARS2, DNAJC6, DOK7, EIF4G1, ERCC2, ERCC3, ERCC4, ERCC5, GBA, GIGYF2, HLA-DQB1, HLA-DRB1, HTRA2, KCNA1, KCND3, LRP4, LRRK2, MAPT, MEN1, MUSK, MYO5A, MYO9A, NFKB2, NOP56, PARK7, PDCD1, PINK1, PRKN, PRNP, PTPN22, PUM1, RAPSN, SCN4A, SERPINI1, SLC18A3, SLC1A3, SLC25A1, SLC2A1, SLC5A7, SNAP25, SNCA, SPTBN2, SYT2, TGFB1, TMEM240, TOP3A, TPP1, UCHL1, VAMP1, VPS13C, VPS35

Displasia septo-óptica

11 genes

ARNT2, FGFR1, HESX1, LHX3, LHX4, OTX2, POU1F1, PROKR2, PROP1, SOX2, SOX3

Distrofia de retina

268 genes

ABCA4, ABCC6, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADGRV1, ADIPOR1, AHI1, AHR, AIPL1, ALMS1, ARL13B, ARL3, ARL6, ATF6, ATXN7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CDH23, CDH3, CDHR1, CEP164, CEP290, CEP41, CERKL, CHM, CIB2, CISD2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, CPLANE1, CRB1, CRX, CTNNA1, CTSD, CYP4V2, DHDDS, DNAJC5, DRAM2, DTHD1, DYNC2H1, EFEMP1, ELOVL4, EMC1, EYS, FAM161A, FLVCR1, FSCN2, FZD4, GDF6, GLIS2, GNAT1, GNAT2, GNB3, GNPTG, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS1, HGSNAT, HK1, HMCN1, HMX1, IDH3B, IFT140, IFT172, IFT80, IFT81, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, ITM2B, JAG1, KCNJ13, KCNV2, KIF11, KIF7, KLHL7, LAMA1, LCA5, LRAT, LRIT3, LRP5, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MTTP, MVK, MYO7A, NBAS, NDP, NEK8, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OPN1SW, OTX2, PANK2, PAX2, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX12, PEX13, PEX16, PEX2, PEX26, PEX5, PEX6, PEX7, PGK1, PHYH, PITPNM3, PLA2G5, PNPLA6, POC1B, POMGNT1, PPT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RASSF8, RAX2, RB1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC41A1, SLC9A6, SNRNP200, SPATA7, TCTN1, TCTN2, TEAD1, TIMM8A, TIMP3, TMEM126A, TMEM138, TMEM216, TMEM237, TMEM67, TOPORS, TPP1, TREX1, TRIM32, TRPM1, TSFM, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBGCP6, TULP1, TWNK, TYR, TYRP1, UNC119, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WFS1, WHRN, XPNPEP3, ZNF423, ZNF513, ZNF592, ZNF674

Glaucoma

49 genes

ACVR1, ADAMTS10, ASB10, BCOR, BEST1, CA4, CANT1, COL11A1, COL18A1, COL4A1, COL8A2, CRPPA, CYP1B1, DDX58, ELP4, FBN1, FOXC1, FOXE3, GJA1, HLA-DRB1, LMX1B, LOXL1, LTBP2, MFRP, MTHFR, MYOC, NTF4, OCRL, OPA1, OPTC, OPTN, PAX6, PEX5, PITX2, PITX3, POMT1, PRSS56, RPGRIP1, RPS19, RRM2B, SBF2, SH3PXD2B, SIX6, SLC4A4, TBK1, TEK, TTR, VSX2, WDR36

Glaucoma congénito

20 genes

ASB10, COL18A1, COL4A1, CRYAA, CRYBA4, CYP1B1, FOXC1, LMX1B, LTBP2, MFRP, MYOC, OPA1, OPA3, OPTN, PAX6, PITX2, SH3PXD2B, TEK, TMEM126A, WDR36

Malformacion ocular

71 genes

ABCB6, ACTB, ACTG1, ADAMTS10, ADAMTS17, ALX1, B3GLCT, BCOR, BLOC1S6, BMP4, CDON, CHMP4B, COL4A1, COL4A2, CYP1B1, CYP27A1, EPHA2, FREM1, FREM2, FRMD7, FZD4, GDF3, GDF6, GJA3, GJA8, GRIP1, HCCS, HESX1, HMGB3, HPS1, HPS3, HPS4, JAG1, LMX1B, LTBP2, MAB21L2, MAF, MIP, MITF, MYO5A, NAA10, NDP, NOTCH2, OCRL, OTX2, P3H2, PIK3R1, PITX2, PITX3, PORCN, PRSS56, RAB27A, RARB, RAX, RBP4, SALL4, SHH, SIL1, SLC16A12, SLC33A1, SLC45A2, SNX3, SOX2, SOX3, STRA6, TENM3, TFAP2A, TGFB2, VAX1, VSX2, WFS1

Miopía

40 genes

ADAMTS2, AGK, ALDH18A1, ARR3, BFSP2, C8ORF37, CLDN19, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, CPSF1, FBN1, GJA1, GRM6, IFIH1, KIF11, LRP2, LRPAP1, LTBP2, MYOC, NIPBL, OPN1LW, P3H2, P4HA2, PLOD1, POLR3A, POLR3B, POMT1, PRIMPOL, RHOA, SCO2, SKI, SLC39A5, SLITRK6, TFAP2A, VCAN, VPS13B, ZNF644

Ptosis congénita

9 genes

ACTB, CHN1, COL25A1, COLQ, FOXL2, KIF21A, PAX6, RYR1, ZFHX4

Síndrome de Alport

6 genes

CD151, COL4A3, COL4A4, COL4A5, COL4A6, MYH9

Síndrome de Senior-Loken

10 genes

CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19

Síndrome de Stickler

6 genes

COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3

Síndrome de Usher

17 genes

ABHD12, ADGRV1, CDH23, CEP250, CIB2, CLRN1, HARS1, MYO7A, PCARE, PCDH15, PDZD7, PEX6, RPGR, USH1C, USH1G, USH2A, WHRN

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