List of diseases covered by Vitreoretinopathy NGS panel

Gene Condition
ATOH7 Persistent hyperplastic primary vitreous, autosomal recessive
BEST1 Vitreoretinochoroidopathy;
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma;
Bestrophinopathy, autosomal recessive; Macular dystrophy, vitelliform, 2;
Retinitis pigmentosa-50
CAPN5 Vitreoretinopathy, neovascular inflammatory
COL2A1 Stickler syndrome type 1;
Stickler sydrome, type I, nonsyndromic ocular;
Achondrogenesis, type II or hypochondrogenesis;
Avascular necrosis of the femoral head; Czech dysplasia;
Epiphyseal dysplasia, multiple, with myopia and deafness;
Kniest dysplasia; Legg-Calve-Perthes disease; Legg-Calve-Perthes disease;
Osteoarthritis with mild chondrodysplasia;
Platyspondylic skeletal dysplasia, Torrance type; SED congenita;
SMED Strudwick type; Spondyloepiphyseal dysplasia, Stanescu type;
Spondyloperipheral dysplasia
COL9A1 Stickler syndrome recessive type;
Multiple epiphyseal dysplasia type 6 (EDM6)
COL9A2 Stickler syndrome;
Multiple epiphyseal dysplasia type 2 (EDM2)
COL9A3 Multiple epihyseal dysplasia type 3 (EDM3)
COL11A1 Marshall syndrome; Fibrochondrogenesis;
Stickler syndrome type 2
COL11A2 Deafness, autosomal dominant 13;
Deafness, autosomal recessive 53; Fibrochondrogenesis 2;
Otospondylomegaepiphyseal dysplasia, autosomal dominant;
Otospondylomegaepiphyseal dysplasia, autosomal recessive
COL18A1 Knobloch syndrome, type 1
FZD4 Knobloch syndrome, type 1
KCNJ13 Leber congenital amaurosis 16;
Snowflake vitreoretinal degeneration
KIF11 Microcephaly with or without chorioretinopathy,
lymphedema, or mental retardation
LRP5 Exudative vitreoretinopathy 4;
Hyperostosis, endosteal; Osteopetrosis, autosomal dominant 1;
Osteoporosis-pseudoglioma syndrome; Osteosclerosis;
van Buchem disease, type 2
NDP Exudative vitreoretinopathy 2, X-linked;
Norrie disease
NR2E3 Enhanced S-cone syndrome; Retinitis pigmentosa 37
RS1 Retinoschisis
TSPAN12 Exudative vitreoretinopathy 5
VCAN Wagner syndrome 1
ZNF408 Exudative vitreoretinopathy 6; Retinitis pigmentosa 72