Human Genetics Section (Sidra Medicine), HGS-SM
General information
Human Genetics Section, HGS-SM
Sidra Medicine
Doha
Qatar - 26999
https://www.sidra.org
Organization ID: 507223
Sidra Medicine
Doha
Qatar - 26999
https://www.sidra.org
Organization ID: 507223
Personnel
- Waleed Aamer, Staff
Phone: 0097477070488
Email: waamer@sidra.org - Alya Al-Kurbi, Staff
Phone: 00974 4003 7668
Email: aalkurbi2@sidra.org - Aljazi Al-Maraghi, Staff
Phone: 0097455321117
Email: aalmaraghi@sidra.org - Khalid Fakhro, Principal Investigator
Phone: 0097440037365
Email: kfakhro@sidra.org
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 26
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCB11 | 1 | Mar 7, 2024 |
| AGTR1 | 1 | Aug 24, 2023 |
| ASH1L | 1 | Mar 7, 2024 |
| ATP1A3 | 1 | Mar 7, 2024 |
| CUL4B | 1 | Mar 7, 2024 |
| DCDC2 | 1 | Mar 7, 2024 |
| DNAH5 | 1 | Mar 7, 2024 |
| DOK7 | 2 | Mar 7, 2024 |
| EFTUD2 | 1 | May 10, 2022 |
| F13A1 | 1 | Mar 7, 2024 |
| FBN1 | 1 | Mar 7, 2024 |
| FBXL4 | 1 | Mar 9, 2024 |
| GNB2 | 1 | Mar 7, 2024 |
| HNF1A | 1 | Mar 7, 2024 |
| IFT56 | 1 | Mar 7, 2024 |
| KAAG1 | 1 | Mar 7, 2024 |
| KMT2D | 1 | Mar 7, 2024 |
| LOC126806951 | 1 | Mar 7, 2024 |
| MPZ | 1 | Mar 7, 2024 |
| NSD1 | 1 | Mar 7, 2024 |
| PGAP3 | 1 | Mar 7, 2024 |
| SHH | 1 | Mar 7, 2024 |
| SIM2 | 1 | Jan 25, 2022 |
| SMARCAL1 | 1 | Mar 7, 2024 |
| SUCLA2 | 1 | Mar 7, 2024 |
| TPP1 | 1 | Mar 7, 2024 |
| TYR | 1 | Mar 7, 2024 |