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 |