Mapped autosomal dominant and X linked cataract loci predominantly involving the eye
| Phenotype | Chromosome | Gene | Abbreviation | Reference |
|---|---|---|---|---|
| Volkmann | 1p36 | – | – | 9 |
| Posterior polar | 1pter-p36.1 | – | – | 10 |
| Zonular pulverulent | 1q21-25 | Connexin 50 | CX50 (GJA8, MP70) | 11, 12 |
| Coppock-like | 2q33-35 | γ crystallin C | CRYGC | 13 |
| Aculeiform/punctate | 2q33-35 | γ crystallin D | CRYGD | 13, 14 |
| Polymorphic (lamellar) | 2q33-35 | – | – | 15 |
| Nuclear sutural | 3q21.2-22.3 | – | – | 16 |
| Congenital cataract plus or minus anterior segment mesenchymal dysgenesis | 10q25 | Paired-like homeodomain transcription factor 3 | PITX3 | 29 |
| Aniridia and cataract | 11p13 | Paired box gene 6 | PAX6 | 30 |
| Pulverulent | 13q | Connexin 46 | CX46 (GJA3) | 17 |
| Anterior polar | 14q24-qter | – | – | 18 |
| Marner (pulverulent) | 16q22 | – | – | 19 |
| Anterior polar | 17p13 | – | – | 20, 21 |
| Zonular sutural (lamellar) | 17q11-12 | βA3/A1-crystallin | CRYBA1 | 22 |
| Cerulean | 17q24 | – | – | 23 |
| Zonular central nuclear | 21q22.3 | α crystallin | CRYAA | 24 |
| Cerulean/Coppock-like | 22q | β2 crystallin | CRYBB2 | 25, 26 |
| Hyperferritinaemia cataract syndrome | 19q13.3-13.4 | Ferritin light chain | FTL | 27, 31 |
| Nance-Horan syndrome | Xp22.3-21.1 | – | – | 28 |