List of diseases covered by
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