Rare Diseases Genetics and Genomics (Islamia College Peshawar), RDGG
General information
Personnel
- Musharraf Jelani, Principal Investigator
Phone: 00923335207053
Email: mjelani@icp.edu.pk
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 7
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 | Jan 18, 2023 |
| Epidermolysis bullosa simplex with nail dystrophy | 1 | Jun 29, 2021 |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 2 | May 21, 2021 |
| Junctional epidermolysis bullosa, non-Herlitz type | 1 | Jun 29, 2021 |
| Leber congenital amaurosis 6 | 1 | Jan 13, 2023 |
| Recessive dystrophic epidermolysis bullosa | 1 | Jan 13, 2023 |