Northcott Neuroscience Laboratory (ANZAC Research Institute), ANZAC-NNL
General information
Northcott Neuroscience Laboratory, ANZAC-NNL
ANZAC Research Institute
ANZAC Research Institute, Gate 3 Hospital Road
Concord
New South Wales
Australia - 2138
https://anzac.edu.au/
Organization ID: 505217
ANZAC Research Institute
ANZAC Research Institute, Gate 3 Hospital Road
Concord
New South Wales
Australia - 2138
https://anzac.edu.au/
Organization ID: 505217
Personnel
- Marina Kennerson, Lab Director
Phone: 9767 9119
Email: marina.kennerson@sydney.edu.au - Melina Ellis, Staff
Phone: 9767 9122
Email: melina.ellis@sydney.edu.au - Bianca Grosz, Staff
Phone: 61297673242
Email: biancagrosz@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 39
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AARS1 | 3 | Sep 2, 2014 |
| BICD2 | 3 | Sep 2, 2014 |
| BSCL2 | 2 | Sep 2, 2014 |
| DCTN1 | 1 | Sep 2, 2014 |
| EGR2 | 1 | Mar 23, 2022 |
| FIG4 | 1 | Sep 2, 2014 |
| GDAP1 | 1 | Sep 2, 2014 |
| GJB1 | 4 | Sep 2, 2014 |
| HNRNPUL2-BSCL2 | 2 | Sep 2, 2014 |
| KIF1B | 3 | Sep 2, 2014 |
| KMT2B | 1 | Mar 23, 2022 |
| LRSAM1 | 1 | Sep 2, 2014 |
| MFN2 | 2 | Sep 2, 2014 |
| NEFL | 5 | Sep 2, 2014 |
| SETX | 8 | Sep 2, 2014 |
| TRPV4 | 2 | Sep 2, 2014 |
| YARS1 | 1 | Sep 2, 2014 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Amyotrophic lateral sclerosis type 4 | 1 | Sep 2, 2014 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 4 | Sep 2, 2014 |
| Charcot-Marie-Tooth disease type 2A2 | 2 | Sep 2, 2014 |
| Dejerine-Sottas disease | 1 | Mar 23, 2022 |
| Dystonia 28, childhood-onset | 1 | Mar 23, 2022 |
| Neuronopathy, distal hereditary motor, type 5A | 1 | Sep 2, 2014 |
| not provided | 29 | Sep 2, 2014 |