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פאנלים
Cataract
GC_65
Last update: 07.01.2026
Inherited cataracts are characterized by congenital or early-onset lens opacification leading to reduced vision and visual impairment. Cataracts may occur as isolated ocular disease or as part of multisystem metabolic, mitochondrial, or syndromic disorders.
This panel includes genes associated with the major forms of congenital and childhood cataract, including crystallin disorders, lens membrane disorders, metabolic diseases, mitochondrial disorders, and syndromic cataracts. Representative genes include CRYAA, CRYAB, CRYBA1, CRYBB2, CRYGD, EPHA2, GJA3, GJA8, HSF4, and PITX3.
This panel is recommended for patients with congenital, infantile, childhood-onset, bilateral, familial, or otherwise unexplained cataracts, particularly when cataract is the predominant clinical finding.
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
4th Floor, Davidoff Building,
Beilinson Hospital
39 Jabotinski St., Petah Tikva
49100 ISRAEL
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