List of diseases covered by Glaucoma NGS panel

Gene Condition
ACVR1 Fibrodysplasia ossificans progressiva
ASB10 Glaucoma 1, open angle, F
BEST1 Bestrophinopathy, autosomal recessive;
Macular dystrophy, vitelliform, 2;
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma;
Retinitis pigmentosa-50; Vitreoretinochoroidopathy
CANT1 Desbuquois dysplasia 1;
Epiphyseal dysplasia, multiple, 7
COL18A1 Knobloch syndrome, type 1
CYP1B1 Anterior segment dysgenesis 6, multiple subtypes;
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset
FOXC1 Anterior segment dysgenesis 3, multiple subtypes;
Axenfeld-Rieger syndrome, type 3
LMX1B Nail-patella syndrome
LOXL1 Exfoliation syndrome, susceptibility to
LTBP2 Glaucoma 3, primary congenital, D;
Microspherophakia and/or megalocornea,
with ectopia lentis and with or without secondary glaucoma;
Weill-Marchesani syndrome 3, recessive
MYOC Glaucoma 1A, primary open angle
NTF4 Glaucoma 1, open angle, 1O
OPTN Glaucoma 1, open angle, E;
Glaucoma, normal tension, susceptibility to
PAX6 Aniridia;
Anterior segment dysgenesis 5, multiple subtypes;
Foveal hypoplasia 1; Keratitis; Optic nerve hypoplasia;
Coloboma of optic nerve; Coloboma, ocular
PITX2 Anterior segment dysgenesis 4;
Axenfeld-Rieger syndrome, type 1; Ring dermoid of cornea
PITX3 Anterior segment dysgenesis 1, multiple subtypes;
Cataract 11, multiple types
SBF2 Charcot-Marie-Tooth disease, type 4B2
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities
WDR36 Glaucoma 1, open angle, G