List of diseases covered by
Anophthalmia/Microphthalmia/Coloboma/
Anterior Segment Dysgenesis NGS panel
Gene | Condition |
ABCB6 | Microphthalmia, isolated, with coloboma 7 |
ALDH1A3 | Microphthalmia, isolated 8 |
ASPH | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs |
BCOR | Oculofaciocardiodental syndrome |
B3GLCT | Peters plus syndrome |
BMP4 | Microphthalmia syndromic 6 |
CHD7 | CHARGE association |
COL4A1 | Brain small vessel disease with hemorrhage |
CYP1B1 | Anterior segment dysgenesis 6 |
EYA1 | Anterior segment anomalies with or without cataract |
FOXC1 | Anterior segment dysgenesis 3 |
FOXE3 | Aphakia, congenital primary |
GDF3 | Microphthalmia, isolated 7; Microphthalmia, isolated, with coloboma 6 |
GDF6 | Microphthalmia, isolated 4 |
HCCS | Linear skin defects with multiple congenital anomalies 1 |
HESX1 | Septo-optic dysplasia sequence |
HMGB3 | Microphthalmia, syndromic 13 |
LTBP2 | Microspherophakia |
MAB21L2 | Microphthalmia/coloboma and skeletal dysplasia syndrome |
MFRP | Microphthalmia, isolated 5 |
OTX2 | Microphthalmia syndromic 5 |
PAX6 | Optic nerve hypoplasia, bilateral |
PITX2 | Iridogoniodysgenesis, dominant type |
PRSS56 | Microphthalmia, isolated 6 |
RARB | Microphthalmia, syndromic 12 |
RAX | Microphthalmia, isolated 3 |
SIX6 | Optic disc anomalies with retinal and/or macular dystrophy |
SLC38A8 | Foveal hypoplasia 2 |
SMOC1 | Microphthalmia with limb anomalies |
SOX2 | Microphthalmia, syndromic 3 |
STRA6 | Microphthalmia syndromic 9 |
TENM3 | Microphthalmia, isolated, with coloboma 9 |
VAX1 | Microphthalmia, syndromic 11 |
VSX1 | Craniofacial anomalies and anterior segment dysgenesis syndrome |
VSX2 | Microphthalmia, isolated 2; Microphthalmia, isolated, with coloboma 3 |