List of diseases covered by
Cataract NGS panel
| Gene | Condition |
| AGK | Cataract and cardiomyopathy; Cataract, autosomal recessive congenital 5 |
| BCOR | Microphthalmia, syndromic 2 |
| BEST1 | Bestrophinopathy, autosomal recessive; Macular dystrophy, vitelliform, 2; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma; Retinitis pigmentosa-50 |
| BFSP1 | Cataract 33, multiple types |
| BFSP2 | Cataract 12, multiple types |
| CHMP4B | Cataract, posterior polar, 3 |
| CRYAA | Cataract, autosomal dominant |
| CRYAB | Cataract 16, multiple types |
| CRYBA1 | Cataract, congenital zonular, with sutural opacities |
| CRYBA4 | Cataract 23, multiple types |
| CRYBB1 | Cataract, congenital nuclear, autosomal recessive 3 |
| CRYBB2 | Cataract 3, multiple types |
| CRYGA | Congenital cataract |
| CRYGB | Cataract 39, multiple types |
| CRYGB | Cataract 39, multiple types |
| CRYGC | Cataract, coppock-like |
| CRYGD | Cataract 4 |
| CRYGS | Cataract 20, multiple types |
| CTDP1 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy |
| EPHA2 | Cataract 6, multiple types |
| EYA1 | Anterior segment anomalies with or without cataract; Branchiootorenal syndrome 1, with or without cataracts |
| FBN1 | Ectopia lentis, familial; Weill-Marchesani syndrome 2, dominant |
| FTL | Hyperferritinemia cataract syndrome; L-ferritin deficiency, dominant and recessive |
| FYCO1 | Cataract, autosomal recessive congenital 2 |
| GALK1 | Galactokinase deficiency with cataracts |
| GCNT2 | Cataract 13 with adult i phenotype |
| GJA1 | Oculodentodigital dysplasia; Oculodentodigital dysplasia, autosomal recessive |
| GJA3 | Zonular pulverulent cataract 3 |
| GJA8 | Cataract 1 |
| GUCY2D | Choroidal dystrophy, central areolar 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type 1I |
| HSF4 | Lamellar cataract |
| LEMD2 | Cataract 46, juvenile-onset |
| LIM2 | Cataract 19, multiple types |
| LONP1 | CODAS syndrome |
| LSS | Cataract 44 |
| MAF | Cataract 21, multiple types |
| MIP | Cataract 15, multiple types |
| NHS | Cataract 40, X-linked; Nance-Horan syndrome |
| NR2E3 | Enhanced S-cone syndrome; Retinitis pigmentosa 37 |
| P3H2 | Myopia, high, with cataract and vitreoretinal degeneration |
| PAX6 | Aniridia; Anterior segment dysgenesis 5, multiple subtypes; Cataract with late-onset corneal dystrophy; Foveal hypoplasia 1; Optic nerve hypoplasia; Keratitis; Coloboma, ocular; Coloboma of optic nerve |
| PITX3 | Anterior segment dysgenesis 1, multiple subtypes; Cataract 11, multiple types |
| PXDN | Anterior segment dysgenesis 7 |
| SIPA1L3 | Cataract 45 |
| SIL1 | Marinesco-Sjogren syndrome |
| SIX6 | Cataract, microphthalmia and nystagmus; Microphthalmia syndromic 3 |
| SLC16A12 | Cataract, juvenile, with microcornea and glucosuria |
| TDRD7 | Cataract, autosomal recessive congenital 4 |
| TRPM3 | Retinal dystrophy and iris coloboma with or without congenital cataract |
| UNC45B | Cataract 43 |
| VIM | Cataract 30 |
| VSX2 | Microphthalmia with coloboma 3; Microphthalmia, isolated 2 |
| Glaucoma 1, open angle, G | |
| Cataract 41 |