Applied Translational Genetics Group (University of Auckland), ATG
General information
Personnel
- Russell Snell, Principal Investigator
Phone: +64 9 923 5059
Email: r.snell@auckland.ac.nz - Jessie Jacobsen, Principal Investigator
Phone: +64 9 3737599 ext 84781
Email: j.jacobsen@auckland.ac.nz - Klaus Lehnert, Principal Investigator
Phone: +64 9 923 3721
Email: klaus.lehnert@auckland.ac.nz - Whitney Whitford, Staff
Phone: +64 9 3737599 ext 86182
Email: whitney.whitford@auckland.ac.nz
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 9
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive ataxia due to ubiquinone deficiency | 2 | Oct 23, 2017 |
| Biotin-responsive basal ganglia disease | 2 | Mar 20, 2017 |
| Brain dopamine-serotonin vesicular transport disease | 1 | Jul 13, 2015 |
| Kleefstra syndrome 2 | 1 | Nov 16, 2022 |
| Lethal Kniest-like syndrome | 2 | May 18, 2021 |
| Schwartz-Jampel syndrome | 2 | May 18, 2021 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 1 | May 18, 2021 |