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 |