Genetics and Genomics Program (Sidra Medicine)
General information
Genetics and Genomics Program
Sidra Medicine
Doha
Ar Rayyan
Qatar - 26999
https://www.sidra.org/
Organization ID: 507294
Sidra Medicine
Doha
Ar Rayyan
Qatar - 26999
https://www.sidra.org/
Organization ID: 507294
Personnel
- Kholoud Alshafai, Staff
Phone: 55843369
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 273
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCC9 | 2 | Aug 26, 2020 |
| ANKRD1 | 2 | Aug 26, 2020 |
| BCL9 | 1 | Sep 22, 2024 |
| BRAF | 1 | Sep 22, 2024 |
| CACNA1D | 1 | Sep 22, 2024 |
| CACNA1I | 1 | Sep 22, 2024 |
| CAVIN4 | 1 | Aug 26, 2020 |
| CCND1 | 1 | Sep 22, 2024 |
| CELSR3 | 1 | Jan 3, 2020 |
| CEP85L | 1 | Aug 26, 2020 |
| CSRP3 | 1 | Aug 26, 2020 |
| DES | 1 | Aug 26, 2020 |
| DMD | 4 | Aug 26, 2020 |
| DOLK | 1 | Aug 26, 2020 |
| DSC2 | 1 | Aug 26, 2020 |
| DSG2 | 1 | Aug 26, 2020 |
| DSP | 5 | Aug 26, 2020 |
| ETFDH | 1 | Jan 3, 2020 |
| FKTN | 1 | Aug 26, 2020 |
| GPR149 | 1 | Jan 3, 2020 |
| ITPR3 | 1 | Sep 22, 2024 |
| JPH2 | 1 | Aug 26, 2020 |
| JUP | 4 | Aug 26, 2020 |
| KCNA10 | 1 | Sep 22, 2024 |
| KCNQ1 | 1 | Sep 22, 2024 |
| KLHL8 | 1 | Sep 22, 2024 |
| LAMA2 | 6 | Aug 26, 2020 |
| LAMA4 | 1 | Aug 26, 2020 |
| LAMA4-AS1 | 1 | Aug 26, 2020 |
| LAMP2 | 1 | Aug 26, 2020 |
| LOC101927055 | 3 | Sep 22, 2024 |
| LOC126806067 | 1 | Aug 26, 2020 |
| LOC126806421 | 1 | Aug 26, 2020 |
| LOC126806422 | 2 | Sep 22, 2024 |
| LOC126806423 | 1 | Aug 26, 2020 |
| LOC126806424 | 3 | Aug 26, 2020 |
| LOC126806425 | 1 | Aug 26, 2020 |
| LOC126806426 | 1 | Aug 26, 2020 |
| LOC126806428 | 1 | Aug 26, 2020 |
| LOC126806429 | 1 | Aug 26, 2020 |
| LOC126806430 | 1 | Aug 26, 2020 |
| LOC126806431 | 1 | Aug 26, 2020 |
| LOC126806433 | 2 | Aug 26, 2020 |
| LOC126861897 | 5 | Aug 26, 2020 |
| LOC126861898 | 1 | Aug 26, 2020 |
| LOC129992585 | 1 | Aug 26, 2020 |
| MASP1 | 1 | Jan 3, 2020 |
| MBLAC1 | 1 | Sep 22, 2024 |
| MHRT | 6 | Aug 26, 2020 |
| MIDN | 1 | Sep 22, 2024 |
| MUC16 | 1 | Sep 22, 2024 |
| MYBPC3 | 13 | Aug 26, 2020 |
| MYH6 | 6 | Aug 26, 2020 |
| MYH7 | 14 | Aug 26, 2020 |
| MYL2 | 1 | Aug 26, 2020 |
| MYL3 | 1 | Aug 26, 2020 |
| MYLK2 | 1 | Aug 26, 2020 |
| MYPN | 3 | Aug 26, 2020 |
| NEXN | 3 | Aug 26, 2020 |
| NKX2-5 | 1 | Aug 26, 2020 |
| PKP2 | 2 | Aug 26, 2020 |
| PLN | 1 | Aug 26, 2020 |
| PRDM16 | 2 | Aug 26, 2020 |
| PTPN11 | 1 | Sep 22, 2024 |
| PTPN13 | 1 | Sep 22, 2024 |
| RBM20 | 5 | Aug 26, 2020 |
| RNF123 | 1 | Jan 3, 2020 |
| RYR2 | 5 | Aug 26, 2020 |
| SCN10A | 1 | Sep 22, 2024 |
| SCN5A | 5 | Sep 22, 2024 |
| SGCB | 4 | Aug 26, 2020 |
| SGCD | 2 | Aug 26, 2020 |
| SLC2A2 | 1 | Sep 22, 2024 |
| TBX20 | 1 | Aug 26, 2020 |
| TBX5 | 1 | Aug 26, 2020 |
| TECRL | 1 | Sep 22, 2024 |
| TNNT2 | 3 | Aug 26, 2020 |
| TPM1 | 2 | Aug 26, 2020 |
| TRIM63 | 2 | Aug 26, 2020 |
| TTN | 129 | Sep 22, 2024 |
| TTN-AS1 | 74 | Sep 22, 2024 |
| UFM1 | 1 | Sep 22, 2024 |
| UQCRC1 | 1 | Jan 3, 2020 |
| VCL | 5 | Aug 26, 2020 |
| VEPH1 | 1 | Sep 22, 2024 |
| VPS13B | 1 | Sep 22, 2024 |
| VSX1 | 1 | Sep 22, 2024 |
| ZBTB17 | 1 | Aug 26, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Brugada syndrome | 1 | Sep 22, 2024 |
| Catecholaminergic polymorphic ventricular tachycardia | 3 | Sep 22, 2024 |
| Congenital long QT syndrome | 23 | Sep 22, 2024 |
| Hypertrophic cardiomyopathy | 101 | Aug 26, 2020 |
| Primary dilated cardiomyopathy | 145 | Aug 26, 2020 |