Eye Genetics Research Group (Children's Medical Research Institute), CMRI
General information
Personnel
- Robyn Jamieson
Phone: 61298453273
Email: rjamieson@cmri.org.au
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 82
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCB6 | 1 | Dec 31, 2014 |
| ADAMTS17 | 1 | Mar 31, 2020 |
| BCOR | 3 | Oct 23, 2015 |
| BFSP1 | 3 | Oct 23, 2015 |
| COL4A1 | 1 | Mar 31, 2020 |
| COL9A3 | 2 | Jul 22, 2020 |
| CPAMD8 | 2 | Mar 31, 2020 |
| CRYAA | 2 | Oct 23, 2015 |
| CRYAB | 2 | Oct 23, 2015 |
| CRYBA1 | 1 | Dec 31, 2014 |
| CRYBA4 | 2 | Oct 23, 2015 |
| CRYBB1 | 1 | Oct 23, 2015 |
| CRYBB2 | 3 | Oct 23, 2015 |
| CRYBB3 | 2 | Oct 23, 2015 |
| CRYGC | 3 | Oct 23, 2015 |
| CRYGD | 2 | Oct 23, 2015 |
| CYP1B1 | 9 | Mar 31, 2020 |
| EPHA2 | 1 | Oct 23, 2015 |
| FOXC1 | 4 | Mar 31, 2020 |
| FOXE3 | 1 | Mar 31, 2020 |
| GDF3 | 1 | Dec 31, 2014 |
| GJA3 | 3 | Oct 23, 2015 |
| GJA8 | 8 | Mar 31, 2020 |
| ITPR1 | 1 | Mar 31, 2020 |
| LINC01389 | 1 | Mar 31, 2020 |
| LOC100507443 | 5 | Oct 23, 2015 |
| LOC126806590 | 1 | Mar 31, 2020 |
| LOC126863239 | 1 | Oct 23, 2015 |
| LOC128772254 | 1 | Mar 31, 2020 |
| MAF | 3 | Oct 23, 2015 |
| MIP | 2 | Oct 23, 2015 |
| NHS | 2 | Oct 23, 2015 |
| NMNAT1 | 2 | Sep 13, 2017 |
| OCRL | 1 | Oct 23, 2015 |
| PAX6 | 4 | Mar 31, 2020 |
| PITX2 | 3 | Mar 31, 2020 |
| PXDN | 2 | Mar 31, 2020 |
| RPE65 | 1 | Sep 20, 2021 |
| RPGR | 1 | Feb 10, 2022 |
| SLC16A12 | 2 | Oct 23, 2015 |
| VIM | 1 | Oct 23, 2015 |
| VIM-AS1 | 1 | Oct 23, 2015 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Anterior segment dysgenesis | 20 | Mar 31, 2020 |
| Cataract 1 multiple types | 1 | Dec 31, 2014 |
| Cataract 10 multiple types | 1 | Dec 31, 2014 |
| Cataract 2, multiple types | 1 | Dec 31, 2014 |
| Cone dystrophy | 1 | Sep 12, 2017 |
| Cone-rod dystrophy | 1 | Sep 13, 2017 |
| Congenital ocular coloboma | 7 | Dec 31, 2014 |
| Developmental cataract | 41 | Oct 23, 2015 |
| Irido-corneo-trabecular dysgenesis | 3 | Dec 31, 2014 |
| Lattice retinal degeneration | 2 | Jul 22, 2020 |
| Leber congenital amaurosis 2 | 1 | Sep 20, 2021 |
| Microphthalmia, isolated, with coloboma 6 | 1 | Dec 31, 2014 |
| Microphthalmia, isolated, with coloboma 7 | 1 | Dec 31, 2014 |
| Retinal detachment | 2 | Jul 22, 2020 |
| Retinitis pigmentosa 3 | 1 | Feb 10, 2022 |