Centre for Population Genomics (CPG)
General information
Centre for Population Genomics
CPG
Sydney
New South Wales
Australia
https://populationgenomics.org.au/
Organization ID: 509293
CPG
Sydney
New South Wales
Australia
https://populationgenomics.org.au/
Organization ID: 509293
Personnel
- Rocio Rius, Variant scientist/curator
Phone: (02) 9295 8100
Email: [email protected] - Cas Simons, Variant scientist/curator
Phone: (02) 9295 8100
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1021
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CDKL5 | 241 | Sep 29, 2024 |
| FOXG1 | 41 | Jun 2, 2024 |
| IRAK1 | 6 | Nov 8, 2023 |
| LOC121853052 | 3 | Sep 29, 2024 |
| LOC130068854 | 9 | Sep 30, 2024 |
| MECP2 | 739 | Sep 30, 2024 |
| RS1 | 15 | Sep 29, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| CDKL5 disorder | 241 | Sep 29, 2024 |
| FOXG1 disorder | 41 | Jun 2, 2024 |
| Rett syndrome | 735 | Sep 30, 2024 |
| Severe neonatal-onset encephalopathy with microcephaly | 3 | Apr 2, 2024 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 1 | Apr 2, 2024 |