List of diseases covered by
Cataract NGS panel

Gene Condition
AGK Cataract and cardiomyopathy;
Cataract, autosomal recessive congenital 5
BCOR Microphthalmia, syndromic 2
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
CRYBB3 Cataract, congenital nuclear, autosomal recessive 2
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
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
HSF4 Lamellar cataract
LIM2 Cataract 19, multiple types
LSS Cataract 44
MAF Cataract 21, multiple types
MIP Cataract 15, multiple types
NHS Cataract 40, X-linked; Nance-Horan syndrome
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
UNC45B Cataract 43
VIM Cataract 30
VSX2 Microphthalmia with coloboma 3;
Microphthalmia, isolated 2