CHEO Genetics Diagnostic Laboratory (Children's Hospital of Eastern Ontario)
General information
CHEO Genetics Diagnostic Laboratory
Children's Hospital of Eastern Ontario
401 Smyth Road
Ottawa
Ontario
Canada - K1H 8L1
https://www.cheo.on.ca/en/clinics-services-programs/genetics-diagnostic-laboratory.aspx
Organization ID: 1050
Children's Hospital of Eastern Ontario
401 Smyth Road
Ottawa
Ontario
Canada - K1H 8L1
https://www.cheo.on.ca/en/clinics-services-programs/genetics-diagnostic-laboratory.aspx
Organization ID: 1050
Personnel
- Mahdi Ghani, Contact
Phone: 16137377600
Email: mghani@cheo.on.ca - Mahdi Ghani, Contact
Phone: 16137377600
Email: mghani@cheo.on.ca - Olga Jarinova
Phone: (613) 737-7600
Email: ojarinova@cheo.on.ca
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 5533
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCC9 | 62 | Dec 23, 2021 |
| ACTA2 | 17 | Dec 23, 2021 |
| ACTA2-AS1 | 6 | Dec 23, 2021 |
| ACTC1 | 26 | Dec 23, 2021 |
| ACTN2 | 108 | Dec 23, 2021 |
| ANKRD1 | 15 | Dec 23, 2021 |
| ATM | 108 | Dec 23, 2021 |
| BRCA1 | 142 | Dec 23, 2021 |
| BRCA2 | 261 | Dec 23, 2021 |
| BRIP1 | 23 | Dec 23, 2021 |
| C11orf65 | 36 | Dec 23, 2021 |
| CASQ2 | 28 | Dec 23, 2021 |
| CAV3 | 25 | Dec 23, 2021 |
| CDH1 | 36 | Dec 23, 2021 |
| CEP85L | 11 | Dec 23, 2021 |
| CHEK2 | 29 | Dec 23, 2021 |
| COL3A1 | 49 | Dec 23, 2021 |
| CRYAB | 7 | Mar 3, 2020 |
| CSRP3 | 38 | Dec 23, 2021 |
| CSRP3-AS1 | 1 | Apr 30, 2018 |
| CTF1 | 10 | Dec 23, 2021 |
| DES | 28 | Dec 23, 2021 |
| DNAAF3 | 2 | Mar 3, 2020 |
| DNASE1L1 | 1 | Apr 30, 2018 |
| DSC2 | 48 | Dec 23, 2021 |
| DSCAS | 4 | Dec 23, 2021 |
| DSG2 | 59 | Dec 23, 2021 |
| DSG2-AS1 | 24 | Dec 23, 2021 |
| DSP | 119 | Dec 23, 2021 |
| DSP-AS1 | 4 | Dec 23, 2021 |
| EMD | 11 | Dec 23, 2021 |
| FBN1 | 231 | Dec 23, 2021 |
| FHL2 | 15 | Mar 3, 2020 |
| GJD2-DT | 26 | Dec 23, 2021 |
| GLA | 16 | Dec 23, 2021 |
| JUP | 33 | Dec 23, 2021 |
| LAMA4 | 70 | Dec 23, 2021 |
| LAMP2 | 16 | Dec 23, 2021 |
| LDB3 | 72 | Dec 23, 2021 |
| LMNA | 47 | Dec 23, 2021 |
| LOC101927055 | 27 | Dec 23, 2021 |
| LOC110121486 | 4 | Dec 23, 2021 |
| LOC113939944 | 5 | Dec 23, 2021 |
| LOC114827850 | 7 | Dec 23, 2021 |
| LOC114827851 | 18 | Dec 23, 2021 |
| MHRT | 40 | Dec 23, 2021 |
| MLH1 | 18 | Dec 23, 2021 |
| MSH2 | 26 | Dec 23, 2021 |
| MSH6 | 34 | Dec 23, 2021 |
| MYBPC3 | 319 | Dec 23, 2021 |
| MYH11 | 119 | Dec 23, 2021 |
| MYH6 | 133 | Dec 23, 2021 |
| MYH7 | 258 | Dec 23, 2021 |
| MYL2 | 33 | Dec 23, 2021 |
| MYL3 | 25 | Dec 23, 2021 |
| MYLK | 101 | Dec 23, 2021 |
| MYLK-AS1 | 10 | Dec 23, 2021 |
| MYLK2 | 35 | Dec 23, 2021 |
| MYOZ2 | 20 | Dec 23, 2021 |
| NDE1 | 57 | Dec 23, 2021 |
| NEXN | 75 | Dec 23, 2021 |
| NOTCH1 | 174 | Dec 23, 2021 |
| PALB2 | 31 | Dec 23, 2021 |
| PKP2 | 70 | Dec 23, 2021 |
| PLN | 11 | Dec 23, 2021 |
| PMS2 | 41 | Dec 23, 2021 |
| PRKAG2 | 58 | Dec 23, 2021 |
| PTEN | 7 | Dec 23, 2021 |
| RAD51C | 15 | Dec 23, 2021 |
| RAD51D | 11 | Dec 23, 2021 |
| RAD51L3-RFFL | 11 | Dec 23, 2021 |
| RBM20 | 86 | Dec 23, 2021 |
| RPL36A-HNRNPH2 | 16 | Dec 23, 2021 |
| RYR2 | 159 | Dec 23, 2021 |
| SGCD | 11 | Dec 23, 2021 |
| SLC2A10 | 29 | Dec 23, 2021 |
| SMAD3 | 34 | Dec 23, 2021 |
| SMAD4 | 9 | Dec 23, 2021 |
| SSUH2 | 3 | Dec 23, 2021 |
| STK11 | 16 | Dec 23, 2021 |
| TAFAZZIN | 6 | Apr 30, 2018 |
| TCAP | 12 | Dec 23, 2021 |
| TGFB2 | 20 | Dec 23, 2021 |
| TGFB3 | 13 | Dec 23, 2021 |
| TGFBR1 | 32 | Dec 23, 2021 |
| TGFBR2 | 30 | Dec 23, 2021 |
| TMEM43 | 26 | Dec 23, 2021 |
| TNNC1 | 22 | Dec 23, 2021 |
| TNNI3 | 41 | Dec 23, 2021 |
| TNNT1 | 1 | Apr 30, 2018 |
| TNNT2 | 64 | Dec 23, 2021 |
| TP53 | 17 | Dec 23, 2021 |
| TPM1 | 31 | Dec 23, 2021 |
| TTN | 1441 | Dec 23, 2021 |
| TTN-AS1 | 839 | Dec 23, 2021 |
| TTR | 21 | Dec 23, 2021 |
| VANGL1 | 2 | Apr 30, 2018 |
| VCL | 50 | Dec 23, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Breast and/or ovarian cancer | 787 | Dec 23, 2021 |
| Breast-ovarian cancer, familial 1 | 1 | Mar 9, 2015 |
| Cardiomyopathy | 3858 | Dec 23, 2021 |
| Familial thoracic aortic aneurysm and aortic dissection | 858 | Dec 23, 2021 |
| Hereditary breast and ovarian cancer syndrome | 11 | Aug 28, 2017 |
| not specified | 18 | Aug 28, 2017 |
Testing in GTR
| Disease name | Number of tests |
|---|---|
| Angelman syndrome | 1 test |
| Arrhythmogenic right ventricular cardiomyopathy | 2 tests |
| Arterial tortuosity syndrome | 2 tests |
| Breast-ovarian cancer, familial 1 | 4 tests |
| Breast-ovarian cancer, familial 2 | 4 tests |
| Cardiomyopathy | 1 test |
| Facioscapulohumeral muscular dystrophy 1 | 1 test |
| Fragile X syndrome | 1 test |
| Hereditary breast and ovarian cancer syndrome | 1 test |
| Hereditary hemochromatosis | 1 test |
| Hypertrophic cardiomyopathy | 2 tests |
| Loeys-Dietz syndrome | 2 tests |
| Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | 2 tests |
| Marfan syndrome | 2 tests |
| Myotonic dystrophy type 2 | 1 test |
| Oculopharyngeal muscular dystrophy | 1 test |
| Prader-Willi syndrome | 1 test |
| Spinal muscular atrophy | 1 test |
| Steinert myotonic dystrophy syndrome | 1 test |
| Thrombophilia due to thrombin defect | 1 test |