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 |
C2orf49 | 10 | Mar 3, 2020 |
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 |
OXTR | 22 | 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, susceptibility to, 1 | 1 | Mar 9, 2015 |
Cardiomyopathy | 3858 | Dec 23, 2021 |
Familial thoracic aortic aneurysm and aortic dissection | 858 | Dec 23, 2021 |
Hereditary breast 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, susceptibility to, 1 | 3 tests |
Breast-ovarian cancer, familial, susceptibility to, 2 | 3 tests |
Cardiomyopathy | 1 test |
Facioscapulohumeral muscular dystrophy 1 | 1 test |
Familial pancreatic carcinoma | 1 test |
Fragile X syndrome | 1 test |
Hereditary breast 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 |