Dept. Genetics and Cancer, Menzies Institute for Medical Research (University of Tasmania)
General information
Dept. Genetics and Cancer, Menzies Institute for Medical Research
University of Tasmania
17 Liverpool St
Hobart
Tasmania
Australia - 7000
https://www.menzies.utas.edu.au/
Organization ID: 507863
University of Tasmania
17 Liverpool St
Hobart
Tasmania
Australia - 7000
https://www.menzies.utas.edu.au/
Organization ID: 507863
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 173
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ANKRD34C-AS1 | 1 | May 5, 2021 |
| BFSP1 | 1 | May 5, 2021 |
| BFSP2 | 1 | May 5, 2021 |
| COL4A1 | 1 | May 5, 2021 |
| CRYAA | 1 | May 5, 2021 |
| CRYBA4 | 1 | May 5, 2021 |
| CRYBB1 | 1 | May 5, 2021 |
| CYP51A1 | 1 | May 5, 2021 |
| ERO1B | 1 | Dec 14, 2020 |
| EYA1 | 1 | May 5, 2021 |
| FBN1 | 1 | May 5, 2021 |
| GJA3 | 58 | Jul 17, 2024 |
| GJA8 | 90 | Jul 17, 2024 |
| HSF4 | 1 | May 5, 2021 |
| IARS2 | 1 | May 5, 2021 |
| LEMD2 | 1 | May 5, 2021 |
| LOC129996186 | 1 | May 5, 2021 |
| LOC130004590 | 1 | May 5, 2021 |
| LONP1 | 1 | May 5, 2021 |
| LSS | 1 | May 5, 2021 |
| MIP | 2 | May 5, 2021 |
| MIR184 | 1 | May 5, 2021 |
| NAALADL2 | 1 | Dec 14, 2020 |
| PGRMC1 | 1 | Dec 14, 2020 |
| PITX3 | 1 | May 5, 2021 |
| PRX | 1 | May 5, 2021 |
| TERT | 1 | Jun 6, 2022 |
| WFS1 | 1 | May 5, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cataract 1 multiple types | 87 | Jul 17, 2024 |
| Cataract 14 multiple types | 55 | Jul 17, 2024 |
| Developmental cataract | 30 | May 5, 2021 |
| Interstitial lung disease 2 | 1 | Jun 6, 2022 |