Table 1

Genes implicated in inherited cataract

Gene classificationGeneGene locusInheritance
Crystallins CRYAA 21q22.3AD/AR
CRYAB 11q22.1-q23.2 AD/AR
CRYBA1 17q11.2-q12 AD/AR
CRYBA2 2q34 AD
CRYBA4 22q12.1 AD/AR
CRYBB1 22q12.1 AD/AR
CRYBB2 22q11.23 AD
CRYBB3 22q11.23 AD/AR
CRYGA 2q33q35 AD
CRYGB 2q33q35 AD
CRYGC 2q33q35 AD
CRYGD 2q33q35 AD
CRYGS 3q25-qter AD
Lens membrane protein GJA3 13q11-q12AD/AR
GJA8 1q21.1 AD/AR
MIP 12q13 AD/AR
TMEM114 16p13.2 AD
EPHA2 1p36 AD/AR
SLC16A12 10q23.13 COMPLEX
LIM2 19q13.4 AR
Developmental factors PAX6 11p13AD
PITX3 10q25 AD/AR
FOXE3 1p32 AD/AR
MAF 16q22-q23 AD
EYA1 8q13.3 AD
VSX2 14q24.3 AR
HSF4 16q21 AD/AR
Cytoskeletal proteins BFSP1 20p11.23-p12.1AD/AR
BFSP2 3q21-q22 AD/AR
VIM 10p13 AD/AR
NHS Xp22.13 XL
Genes with special roles in the lens TDRD7 9q22.33 AD
CHMP4B 20q11.22 AD
WFS1 4p16.1 AD
FYCO1 3p21.31 AR
GCNT2 6p24.2 AR
FTL 19q13.33 AD
AGK 7q34 AR
  • As described in Cat-Map; an online chromosome map and reference database for inherited and age-related forms of cataract(s) in humans, mice and other vertebrates (