Department of Medical Genomics (Royal Prince Alfred Hospital), RPA-MedicalGenomics
General information
Personnel
- Pak Leng Cheong, Medical Director
Phone: +61295158403
Email: [email protected] - Huong Le, Variant scientist/curator
Phone: +61295157955
Email: [email protected] - Ronald Trent, Lab Director
Phone: +61295157955
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 16
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| BCHE | 1 | Jun 19, 2023 |
| HBA1 | 1 | Nov 26, 2023 |
| HBA2 | 3 | Mar 12, 2024 |
| HBB | 2 | May 5, 2024 |
| IFT56 | 1 | Sep 14, 2023 |
| LDLR | 1 | Dec 1, 2022 |
| LOC106804612 | 3 | Mar 12, 2024 |
| LOC106804613 | 1 | Nov 26, 2023 |
| LOC107133510 | 2 | May 5, 2024 |
| LOC110006319 | 2 | May 5, 2024 |
| PPOX | 1 | Jul 3, 2022 |
| PROKR2 | 1 | Sep 10, 2023 |
| RTEL1 | 1 | Jul 20, 2024 |
| RTEL1-TNFRSF6B | 1 | Jul 20, 2024 |
| SFTPC | 1 | May 11, 2023 |
| SRD5A2 | 1 | Mar 13, 2023 |
| TERT | 1 | Jul 15, 2022 |
| WDR11 | 1 | Jan 20, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 1 | Mar 13, 2023 |
| Beta-thalassemia HBB/LCRB | 2 | May 5, 2024 |
| Biliary, renal, neurologic, and skeletal syndrome | 1 | Sep 14, 2023 |
| Deficiency of butyrylcholinesterase | 1 | Jun 19, 2023 |
| Familial hypercholesterolemia | 1 | Dec 1, 2022 |
| Hypogonadotropic hypogonadism 14 with or without anosmia | 1 | Jan 20, 2023 |
| Hypogonadotropic hypogonadism 3 with or without anosmia | 1 | Sep 10, 2023 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 1 | Jul 15, 2022 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 1 | Jul 20, 2024 |
| Surfactant metabolism dysfunction, pulmonary, 2 | 1 | May 11, 2023 |
| Variegate porphyria | 1 | Jul 3, 2022 |
| alpha Thalassemia | 4 | Mar 12, 2024 |