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 |