Neurogenetics Research Program (University of Adelaide), Neuro
General information
Neurogenetics Research Program, Neuro
University of Adelaide
North Terrace
Adelaide
South Australia
Australia - 5000
http://www.adelaide.edu.au
Organization ID: 506129
University of Adelaide
North Terrace
Adelaide
South Australia
Australia - 5000
http://www.adelaide.edu.au
Organization ID: 506129
Personnel
- Mark Corbett, Administrator
Phone: +6183137938
Email: mark.corbett@adelaide.edu.au - Duyen Pham, Staff
Phone: +6183137955
Email: duyen.pham@adelaide.edu.au - Clare van Eyk, Administrator
Phone: +61883132455
Email: clare.vaneyk@adelaide.edu.au - Dani Webber, Staff
Phone: +61430137322
Email: dani.fornarino@adelaide.edu.au
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 78
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ALDH3A2 | 1 | Jun 14, 2021 |
| AP1S2 | 1 | Jun 10, 2021 |
| ARFGEF1-DT | 1 | Jun 14, 2021 |
| ARHGAP31 | 1 | Jun 14, 2021 |
| ARX | 1 | Jun 10, 2021 |
| ASTN2 | 1 | Jun 14, 2021 |
| BUB1B | 1 | Jun 14, 2021 |
| CACNA1A | 1 | Jun 14, 2021 |
| CACNA1C | 1 | Jun 14, 2021 |
| CLCN1 | 1 | Jun 14, 2021 |
| CLCN2 | 1 | Jun 14, 2021 |
| COL4A1 | 2 | Jun 14, 2021 |
| COL4A2 | 3 | Jun 14, 2021 |
| COL4A2-AS1 | 1 | Jun 14, 2021 |
| CPA6 | 1 | Jun 14, 2021 |
| DLG3 | 1 | Aug 21, 2023 |
| EGFR | 1 | Jun 14, 2021 |
| F2 | 2 | Jun 14, 2021 |
| F8 | 1 | Jun 14, 2021 |
| GALC | 1 | Jun 14, 2021 |
| GNB1 | 1 | Jun 14, 2021 |
| GRIN2B | 1 | Jun 14, 2021 |
| HTT | 1 | Jun 14, 2021 |
| KIDINS220 | 1 | Jun 14, 2021 |
| KLHL3 | 1 | Jun 14, 2021 |
| MFN2 | 1 | Jun 14, 2021 |
| MT-TL1 | 1 | Jun 14, 2021 |
| NECTIN2 | 1 | Jun 14, 2021 |
| NF1 | 1 | Jun 14, 2021 |
| NKX2-6 | 1 | Jun 14, 2021 |
| NLGN3 | 1 | May 20, 2019 |
| OFD1 | 1 | Jun 14, 2021 |
| PCDH19 | 19 | Jan 7, 2020 |
| PDGFRB | 1 | Jun 14, 2021 |
| PIEZO2 | 1 | Jun 14, 2021 |
| PNPLA4 | 1 | Jun 14, 2021 |
| PROC | 1 | Jun 14, 2021 |
| SETX | 1 | Jun 14, 2021 |
| SLC16A2 | 1 | Jun 10, 2021 |
| SLC32A1 | 8 | Apr 19, 2020 |
| SPAST | 3 | Jun 14, 2021 |
| STARD7 | 1 | Jun 11, 2019 |
| STS | 1 | Jun 14, 2021 |
| SYNE2 | 1 | Jun 14, 2021 |
| TRIM32 | 1 | Jun 14, 2021 |
| TTN | 1 | Jun 14, 2021 |
| TTN-AS1 | 1 | Jun 14, 2021 |
| TUBA1A | 1 | Jun 14, 2021 |
| TUBB4A | 1 | Jun 14, 2021 |
| VCX3A | 1 | Jun 14, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Allan-Herndon-Dudley syndrome | 1 | Jun 10, 2021 |
| Autistic behavior | 1 | May 20, 2019 |
| Cerebral palsy | 44 | Jun 14, 2021 |
| Developmental and epileptic encephalopathy, 9 | 11 | Jan 7, 2020 |
| Epilepsy, familial adult myoclonic, 2 | 1 | Jun 11, 2019 |
| Familial GGE | 1 | Jan 7, 2020 |
| Generalized epilepsy with febrile seizures plus | 8 | Apr 19, 2020 |
| Intellectual disability | 1 | May 20, 2019 |
| Intellectual disability, X-linked 90 | 1 | Aug 21, 2023 |
| Intellectual disability, X-linked, with or without seizures, arx-related | 1 | Jun 10, 2021 |
| Neurodevelopmental disorder with epilepsy | 2 | Jan 7, 2020 |
| Non-ketotic hyperglycinemia | 11 | Jan 7, 2020 |
| Non-lesional parietal lobe epilepsy | 1 | Jan 7, 2020 |
| Periventricular nodular heterotopia and epilepsy | 1 | Jan 7, 2020 |
| Pettigrew syndrome | 1 | Jun 10, 2021 |
| Refractory epilepsy with Lennox Gastaut syndrome | 1 | Jan 7, 2020 |
| Simpson-Golabi-Behmel syndrome type 2 | 1 | Jun 14, 2021 |
| sporadic NAFE | 2 | Jan 7, 2020 |