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פאנלים
Anophthalmia microphthalmia coloboma
GC_38
Last update: 18.01.2026
Anophthalmia, microphthalmia, and coloboma (AMC) are congenital developmental eye disorders resulting from abnormal formation of the optic vesicle, optic cup, or optic fissure. These conditions may occur in isolation or as part of multisystem syndromes involving the brain, craniofacial structures, growth, or other organs.
This panel includes genes associated with the major developmental eye disorders, including anophthalmia, microphthalmia, coloboma, anterior segment dysgenesis, and syndromic ocular malformations. Representative genes include SOX2, OTX2, PAX6, RAX, VSX2, ALDH1A3, STRA6, and FOXC1.
This panel is recommended for patients with congenital structural eye abnormalities, particularly absent or small eyes, coloboma, or severe developmental ocular anomalies, especially when associated with additional congenital abnormalities.
ABCB6, ACTB, ACTG1, ADAMTS18, ALDH1A3, ALX1, ASPH, B3GLCT, BCOR, BMP4, BMP7, C12ORF57, C12orf57, CAPN15, CC2D2A, CDK9, CDON, CHD7, CLDN19, COL4A1, COX7B, CPAMD8, CRYAA, CRYBA4, CYP1B1, DCDC1, ELP4, ERCC2, ERCC5, ERCC6, FAT1, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, FZD5, GDF6, GJA1, GRIP1, HCCS, HESX1, HMGB3, HMX1, IGBP1, ITPR1, KDM6A, KERA, KMT2D, LRP2, MAB21L2, MAF, MFRP, MIR204, MITF, MYRF, NAA10, NDP, NR6A1, OCRL, OTX2, PAX2, PAX6, PIGL, PITX2, PITX3, PLK4, PORCN, PQBP1, PRDM5, PRSS56, PUF60, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RBP4, RERE, RPGRIP1L, SALL2, SALL4, SHH, SIPA1L3, SIX3, SIX6, SLC38A8, SMCHD1, SMO, SMOC1, SOX2, STRA6, TBC1D20, TENM3, TFAP2A, TMEM98, TUBGCP4, UBE3B, VAX1, VPS13B, VPS35L, VSX1, VSX2, WNT2B, YAP1, ZDBF2, ZIC2
ClinVar P/LP variants (IDs) not covered: -
4th Floor, Davidoff Building,
Beilinson Hospital
39 Jabotinski St., Petah Tikva
49100 ISRAEL
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