Medical Molecular Genetics Department (Human Genetics and Genome Research Division, National Research Centre), MMG_HGGR_NRC
General information
Personnel
- Noura Eissa, Staff
Phone: 01007707615
Email: nr.eissa@yahoo.com - Heba Hassan, Staff
Phone: 01018805363
Email: heba.aminh@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 9
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Bethlem myopathy 1A | 5 | May 20, 2024 |
| Developmental and epileptic encephalopathy, 11 | 1 | May 20, 2024 |
| GNPTG-mucolipidosis | 2 | Jun 12, 2020 |
| Mucolipidosis type II | 1 | Feb 1, 2019 |