Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease (Montreal Heart Institute)
General information
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease
Montreal Heart Institute
5000, rue Bélanger
Montréal
Quebec
Canada - H1T 1C8
http://icm-mhi.org/fr/genetique
Organization ID: 505816
Montreal Heart Institute
5000, rue Bélanger
Montréal
Quebec
Canada - H1T 1C8
http://icm-mhi.org/fr/genetique
Organization ID: 505816
Personnel
- Joel Lavoie, Lab Associate Director
Phone: 514-376-3330
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1304
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCC9 | 5 | Jul 24, 2020 |
| ABCG8 | 1 | Feb 19, 2019 |
| ACTA2 | 1 | Aug 2, 2017 |
| ACTA2-AS1 | 1 | Aug 2, 2017 |
| ACTC1 | 6 | Jul 24, 2020 |
| ACTN2 | 27 | Jul 24, 2020 |
| AKAP9 | 19 | Jul 24, 2020 |
| ANK2 | 21 | Jul 24, 2020 |
| ANKRD1 | 10 | Jul 24, 2020 |
| APOA5 | 3 | Jul 24, 2020 |
| APOB | 55 | Jul 24, 2020 |
| APOE | 2 | Feb 19, 2019 |
| BAG3 | 16 | Jul 24, 2020 |
| CACNA1C | 11 | Jul 24, 2020 |
| CACNA1C-AS1 | 3 | Aug 2, 2017 |
| CACNA2D1 | 1 | Feb 19, 2019 |
| CASQ2 | 5 | Jul 24, 2020 |
| CAV3 | 4 | Feb 19, 2019 |
| CEP85L | 1 | Feb 19, 2019 |
| COL2A1 | 1 | Jul 24, 2020 |
| COL3A1 | 2 | Aug 2, 2017 |
| CSRP3 | 9 | Jul 24, 2020 |
| DES | 5 | Jul 24, 2020 |
| DMD | 27 | Jul 24, 2020 |
| DNAAF3 | 3 | Jul 24, 2020 |
| DSC2 | 17 | Jul 24, 2020 |
| DSG2 | 29 | Jul 24, 2020 |
| DSG2-AS1 | 18 | Jul 24, 2020 |
| DSP | 61 | Jul 24, 2020 |
| DSP-AS1 | 2 | Jul 24, 2020 |
| EMD | 2 | Jul 24, 2020 |
| FBN1 | 30 | Jul 24, 2020 |
| FLNC | 2 | Jul 24, 2020 |
| FLNC-AS1 | 2 | Jul 24, 2020 |
| GJD2-DT | 6 | Jul 24, 2020 |
| GLA | 9 | Jul 24, 2020 |
| GPIHBP1 | 2 | Jul 24, 2020 |
| HCN4 | 2 | Jul 24, 2020 |
| JPH2 | 14 | Jul 24, 2020 |
| JUP | 13 | Jul 24, 2020 |
| KCND3 | 1 | Feb 19, 2019 |
| KCNE1 | 3 | Jul 24, 2020 |
| KCNE2 | 1 | Feb 19, 2019 |
| KCNH2 | 32 | Jan 8, 2024 |
| KCNJ2 | 7 | Jul 24, 2020 |
| KCNJ5 | 2 | Aug 2, 2017 |
| KCNQ1 | 26 | Sep 25, 2023 |
| KCNQ1-AS1 | 2 | Jul 24, 2020 |
| KCNQ1OT1 | 1 | Aug 2, 2017 |
| LAMA4 | 1 | Aug 2, 2017 |
| LAMP2 | 6 | Jul 24, 2020 |
| LDB3 | 21 | Jul 24, 2020 |
| LDLR | 51 | Jul 24, 2020 |
| LDLR-AS1 | 1 | Jul 24, 2020 |
| LDLRAP1 | 3 | Jul 24, 2020 |
| LMF1 | 2 | Jul 24, 2020 |
| LMNA | 17 | Jan 8, 2024 |
| LOC105372791 | 1 | Feb 19, 2019 |
| LOC106560211 | 2 | Jul 24, 2020 |
| LOC110121269 | 8 | Jan 8, 2024 |
| LOC110121288 | 6 | Aug 2, 2017 |
| LOC110121486 | 1 | Aug 2, 2017 |
| LOC114827850 | 2 | Feb 19, 2019 |
| LOC114827851 | 5 | Jul 24, 2020 |
| LOC126806068 | 4 | Jul 24, 2020 |
| LOC126806421 | 1 | Jul 24, 2020 |
| LOC126806422 | 1 | Aug 2, 2017 |
| LOC126806427 | 1 | Jul 24, 2020 |
| LOC126806432 | 1 | Feb 19, 2019 |
| LOC126807137 | 1 | Jul 24, 2020 |
| LOC126861896 | 6 | Jul 24, 2020 |
| LOC126861897 | 6 | Jul 24, 2020 |
| LOC126861898 | 3 | Feb 19, 2019 |
| LOC129931597 | 1 | Jul 24, 2020 |
| LOC129999660 | 1 | Jul 24, 2020 |
| LOC130007664 | 1 | Jul 24, 2020 |
| LOC130057222 | 2 | Jul 24, 2020 |
| LOC130062340 | 1 | Aug 2, 2017 |
| LOC130065680 | 1 | Jul 24, 2020 |
| LPL | 5 | Jul 24, 2020 |
| MHRT | 9 | Jul 24, 2020 |
| MIR208B | 1 | Jul 24, 2020 |
| MYBPC3 | 119 | Jul 24, 2020 |
| MYH11 | 4 | Jul 24, 2020 |
| MYH6 | 62 | Jul 24, 2020 |
| MYH7 | 78 | Jan 8, 2024 |
| MYL2 | 5 | Feb 19, 2019 |
| MYL3 | 4 | Jul 24, 2020 |
| MYLK | 2 | Jul 24, 2020 |
| MYOZ2 | 1 | Aug 2, 2017 |
| MYPN | 24 | Jul 24, 2020 |
| NDE1 | 3 | Jul 24, 2020 |
| NEXN | 17 | Jul 24, 2020 |
| NOS1AP | 1 | Aug 2, 2017 |
| OXTR | 3 | Feb 19, 2019 |
| PCSK9 | 3 | Jul 24, 2020 |
| PKP2 | 37 | Jul 24, 2020 |
| PLN | 1 | Feb 19, 2019 |
| PRKAG2 | 10 | Jul 24, 2020 |
| PTPN11 | 3 | Jul 24, 2020 |
| RAF1 | 9 | Jul 24, 2020 |
| RANGRF | 1 | Feb 19, 2019 |
| RBM20 | 29 | Jul 24, 2020 |
| RPL36A-HNRNPH2 | 9 | Jul 24, 2020 |
| RYR2 | 47 | Jul 24, 2020 |
| SCN10A | 14 | Aug 2, 2017 |
| SCN1B | 2 | Jul 24, 2020 |
| SCN5A | 54 | Jan 8, 2024 |
| SGCD | 4 | Jul 24, 2020 |
| SLC25A35 | 1 | Feb 19, 2019 |
| SLC2A10 | 1 | Feb 19, 2019 |
| SMAD3 | 6 | Jul 24, 2020 |
| SNTA1 | 4 | Jul 24, 2020 |
| SSUH2 | 1 | Feb 19, 2019 |
| TAFAZZIN | 2 | Jul 24, 2020 |
| TCAP | 7 | Jul 24, 2020 |
| TECRL | 1 | Aug 2, 2017 |
| TGFB2 | 2 | Jul 24, 2020 |
| TGFB3 | 2 | Aug 2, 2017 |
| TGFBR1 | 6 | Jul 24, 2020 |
| TGFBR2 | 6 | Jul 24, 2020 |
| TMEM43 | 8 | Jul 24, 2020 |
| TNNI3 | 12 | Jul 24, 2020 |
| TNNT2 | 21 | Jan 8, 2024 |
| TPM1 | 13 | Jul 24, 2020 |
| TPM1-AS | 2 | Jul 24, 2020 |
| TRDN | 1 | Feb 19, 2019 |
| TRPM4 | 6 | Jul 24, 2020 |
| TTN | 71 | Jul 24, 2020 |
| TTN-AS1 | 49 | Jul 24, 2020 |
| TTR | 5 | Jul 24, 2020 |
| VANGL1 | 1 | Jul 24, 2020 |
| VCL | 9 | Jul 24, 2020 |
Condition
Testing in GTR
| Disease name | Number of tests |
|---|---|
| Amyloidosis, hereditary systemic 1 | 2 tests |
| Andersen Tawil syndrome | 2 tests |
| Arrhythmogenic right ventricular cardiomyopathy | 14 tests |
| Brugada syndrome | 15 tests |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 8 tests |
| Congenital long QT syndrome | 17 tests |
| Ehlers-Danlos syndrome, classic type | 3 tests |
| Ehlers-Danlos syndrome, classic type, 1 | 1 test |
| Ehlers-Danlos syndrome, type 4 | 2 tests |
| Familial thoracic aortic aneurysm and aortic dissection | 11 tests |
| Hyperalphalipoproteinemia | 1 test |
| Hypercholesterolemia, familial, 1 | 1 test |
| Hypertriglyceridemia | 1 test |
| Loeys-Dietz syndrome | 6 tests |
| Marfan syndrome | 2 tests |
| Noonan syndrome | 1 test |
| Primary familial dilated cardiomyopathy | 34 tests |
| Primary familial hypertrophic cardiomyopathy | 25 tests |
| Short QT syndrome | 7 tests |
| Sitosterolemia | 1 test |
| Wolff-Parkinson-White pattern | 1 test |