Medical Molecular Genetics Department (National Research Center), MMG
General information
Medical Molecular Genetics Department, MMG
National Research Center
El Buhouth st., Dokki
Cairo
Egypt - 12311
http://www.nrc.sci.eg/
Organization ID: 505907
National Research Center
El Buhouth st., Dokki
Cairo
Egypt - 12311
http://www.nrc.sci.eg/
Organization ID: 505907
Personnel
- Nahla Abdel-Aziz, Principal Investigator
Phone: 00201155180099
Email: [email protected] - Nora Eissa, Coordinator
Phone: 0020 100 770 7615
Email: [email protected] - Nesma Elaraby, Principal Investigator
Phone: 01143938658
Email: [email protected] - Nagham Elbagoury, Principal Investigator
Phone: 00201013004823
Email: [email protected] - Heba Hassan, Principal Investigator
Phone: 00201018805363
Email: [email protected] - Eman Rabie, Principal Investigator
Phone: +201020078334
Email: [email protected] - Wessam Sharaf-Eldin, Principal Investigator
Phone: 00201006216027
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 134
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ADAT3 | 1 | Oct 10, 2024 |
| ALS2 | 13 | Jan 1, 2023 |
| ARMCX5-GPRASP2 | 1 | Dec 27, 2022 |
| ARSA | 10 | Nov 18, 2019 |
| ARSB | 8 | Oct 25, 2017 |
| BAZ2B | 1 | Apr 11, 2022 |
| BEST1 | 2 | Apr 20, 2022 |
| CAPN3 | 5 | Nov 8, 2024 |
| COL6A2 | 1 | Feb 4, 2024 |
| CTSC | 1 | Mar 30, 2023 |
| EDA | 8 | Jul 30, 2021 |
| EDAR | 1 | Feb 13, 2021 |
| EDARADD | 2 | Feb 13, 2021 |
| FKBP10 | 13 | Apr 2, 2019 |
| GAA | 3 | Jun 12, 2020 |
| GPRASP2 | 1 | Dec 27, 2022 |
| KCNQ1 | 1 | Aug 22, 2024 |
| LHCGR | 1 | Apr 23, 2019 |
| LIPA | 2 | Jun 15, 2023 |
| LOC111811965 | 1 | Oct 24, 2019 |
| LOC129994126 | 6 | Oct 25, 2017 |
| LPCAT2 | 1 | Apr 19, 2019 |
| MECP2 | 6 | Feb 17, 2019 |
| MIR4733HG | 1 | Oct 24, 2019 |
| MYO3A | 1 | Aug 22, 2024 |
| NECTIN4 | 1 | Feb 13, 2021 |
| NF1 | 8 | Oct 24, 2019 |
| NPC1 | 2 | Mar 6, 2020 |
| PAX1 | 1 | Dec 27, 2022 |
| PEX6 | 1 | Aug 22, 2024 |
| POLR1D | 1 | Dec 27, 2022 |
| RAB23 | 1 | Aug 21, 2021 |
| RANBP2 | 1 | Feb 13, 2021 |
| SAG | 3 | Dec 28, 2020 |
| SCAMP4 | 1 | Oct 10, 2024 |
| SERPINF1 | 13 | Apr 2, 2019 |
| STON1-GTF2A1L | 1 | Apr 23, 2019 |
| TCOF1 | 5 | Dec 27, 2022 |
| TMC1 | 1 | Aug 22, 2024 |
| TNNI1 | 1 | Apr 12, 2023 |
| TYR | 2 | Aug 9, 2024 |
| XPA | 3 | Apr 16, 2020 |
| XPC | 9 | Apr 16, 2020 |