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 |