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פאנלים

Myopia

GC_60

Last update: 07.01.2026

High myopia is characterized by excessive axial elongation of the eye resulting in severe nearsightedness and increased risk of retinal detachment, macular degeneration, glaucoma, and other ocular complications. Early-onset or syndromic high myopia may be associated with connective tissue disorders, retinal dystrophies, or developmental syndromes.

This panel includes genes associated with the major causes of syndromic and non-syndromic high myopia, including connective tissue disorders, retinal dystrophies, congenital ocular malformations, and developmental syndromes. Representative genes include FBN1, COL2A1, COL11A1, LRP2, PAX6, OPA1, RPGR, and ZNF644.

This panel is recommended for patients with severe, early-onset, familial, or syndromic high myopia, particularly when associated with retinal abnormalities, lens findings, developmental features, or connective tissue manifestations.
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]

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