List of diseases covered by Ectopia Lentis NGS panel

Gene Condition
AASS Hyperlysinemia
ADAMTS10 Weill-Marchesani syndrome 1, recessive
ADAMTS17 Weill-Marchesani 4 syndrome, recessive
ADAMTSL4 Ectopia lentis et pupillae; Ectopia lentis, isolated, autosomal recessive
ASPH Traboulsi syndrome
BCOR Microphthalmia, syndromic 2
CBS Homocystinuria, B6-responsive and nonresponsive types
COL8A2 Corneal dystrophy, Fuchs endothelial, 1;
Corneal dystrophy, posterior polymorphous 2
COL18A1 Knobloch syndrome, type 1
CYP1B1 Anterior segment dysgenesis 6, multiple subtypes;
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset
FBN1 Ectopia lentis, familial; Acromicric dysplasia;
Geleophysic dysplasia 2; Marfan lipodystrophy syndrome;
Marfan syndrome; MASS syndrome; Stiff skin syndrome;
Weill-Marchesani syndrome 2, dominant
FOXC1 Anterior segment dysgenesis 3, multiple subtypes;
Axenfeld-Rieger syndrome, type 3
LTBP2 Microspherophakia and/or megalocornea,
with ectopia lentis and with or without secondary glaucoma;
Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3, recessive
PAX6 Aniridia;
Anterior segment dysgenesis 5, multiple subtypes;
Foveal hypoplasia 1; Keratitis; Optic nerve hypoplasia;
Coloboma of optic nerve; Coloboma, ocular
P3H2 Myopia, high,
with cataract and vitreoretinal degeneration
PORCN Focal dermal hypoplasia
SUOX Sulfite oxidase deficiency
VSX2 Microphthalmia with coloboma 3;
Microphthalmia, isolated 2