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: kalshafai@sidra.org
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 |
CAVIN4 | 1 | Aug 26, 2020 |
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 |
JPH2 | 1 | Aug 26, 2020 |
JUP | 4 | Aug 26, 2020 |
LAMA2 | 6 | Aug 26, 2020 |
LAMA4 | 1 | Aug 26, 2020 |
LAMA4-AS1 | 1 | Aug 26, 2020 |
LAMP2 | 1 | Aug 26, 2020 |
LOC101927055 | 2 | Aug 26, 2020 |
LOC126806067 | 1 | Aug 26, 2020 |
LOC126806421 | 1 | Aug 26, 2020 |
LOC126806422 | 1 | Aug 26, 2020 |
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 |
MHRT | 6 | Aug 26, 2020 |
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 |
RBM20 | 5 | Aug 26, 2020 |
RNF123 | 1 | Jan 3, 2020 |
RYR2 | 5 | Aug 26, 2020 |
SCN5A | 4 | Aug 26, 2020 |
SGCB | 4 | Aug 26, 2020 |
SGCD | 2 | Aug 26, 2020 |
TBX20 | 1 | Aug 26, 2020 |
TBX5 | 1 | Aug 26, 2020 |
TNNT2 | 3 | Aug 26, 2020 |
TPM1 | 2 | Aug 26, 2020 |
TRIM63 | 2 | Aug 26, 2020 |
TTN | 124 | Aug 26, 2020 |
TTN-AS1 | 71 | Aug 26, 2020 |
UQCRC1 | 1 | Jan 3, 2020 |
VCL | 5 | Aug 26, 2020 |
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 |